Disorders of thyroid gland (240–246)

• Simple and unspecified goiter
  • Goiter, unspec.
    Goitre
    A goitre or goiter , is a swelling in the thyroid gland, which can lead to a swelling of the neck or larynx...
    
    
• Nontoxic nodular goiter
  • Thyroid nodule
    Thyroid nodule
    Thyroid nodules are lumps which commonly arise within an otherwise normal thyroid gland. They indicate a thyroid neoplasm, but only a small percentage of these are thyroid cancers.-Presentation:...
    
    
  • Goiter, unspec. nontoxic nodular
    Goitre
    A goitre or goiter , is a swelling in the thyroid gland, which can lead to a swelling of the neck or larynx...
    
    
• Thyrotoxicosis with or without goiter
  • Goiter toxic, diffuse
    Goitre
    A goitre or goiter , is a swelling in the thyroid gland, which can lead to a swelling of the neck or larynx...
    
    
  • Hyperthyroidism, NOS
    Hyperthyroidism
    Hyperthyroidism is the term for overactive tissue within the thyroid gland causing an overproduction of thyroid hormones . Hyperthyroidism is thus a cause of thyrotoxicosis, the clinical condition of increased thyroid hormones in the blood. Hyperthyroidism and thyrotoxicosis are not synonymous...
    
    
• Congenital hypothyroidism
  Congenital hypothyroidism
  Congenital hypothyroidism is a condition of thyroid hormone deficiency present at birth. Approximately 1 in 4000 newborn infants has a severe deficiency of thyroid function, while even more have mild or partial degrees. If untreated for several months after birth, severe congenital hypothyroidism...
  
  
• Acquired hypothyroidism
  • Hypothyroidism, post-surgical
    Hypothyroidism
    Hypothyroidism is a condition in which the thyroid gland does not make enough thyroid hormone.Iodine deficiency is the most common cause of hypothyroidism worldwide but it can be caused by other causes such as several conditions of the thyroid gland or, less commonly, the pituitary gland or...
    
    
  • Hypothyroidism, post-ablative
    Hypothyroidism
    Hypothyroidism is a condition in which the thyroid gland does not make enough thyroid hormone.Iodine deficiency is the most common cause of hypothyroidism worldwide but it can be caused by other causes such as several conditions of the thyroid gland or, less commonly, the pituitary gland or...
    
    
  • Hypothyroidism, unspec.
    Hypothyroidism
    Hypothyroidism is a condition in which the thyroid gland does not make enough thyroid hormone.Iodine deficiency is the most common cause of hypothyroidism worldwide but it can be caused by other causes such as several conditions of the thyroid gland or, less commonly, the pituitary gland or...
    
    
• Thyroiditis
  Thyroiditis
  Thyroiditis is the inflammation of the thyroid gland. The thyroid gland is located on the front of the neck below the laryngeal prominence, and makes hormones that control metabolism.-Classification:...
  
  
  • Thyroiditis, acute
    Thyroiditis
    Thyroiditis is the inflammation of the thyroid gland. The thyroid gland is located on the front of the neck below the laryngeal prominence, and makes hormones that control metabolism.-Classification:...
    
    
  • Thyroiditis, subacute
    Thyroiditis
    Thyroiditis is the inflammation of the thyroid gland. The thyroid gland is located on the front of the neck below the laryngeal prominence, and makes hormones that control metabolism.-Classification:...
    
    
  • Thyroiditis, chronic, Hashimoto's
    Hashimoto's thyroiditis
    Hashimoto's thyroiditis or chronic lymphocytic thyroiditis is an autoimmune disease in which the thyroid gland is gradually destroyed by a variety of cell- and antibody-mediated immune processes. It was the first disease to be recognized as an autoimmune disease...
    
    
• Other disorders of thyroid
  • Thyroid cyst

Diseases of other endocrine glands (249–259)

• Note: for 249–259, the following fifth digit can be added:
  • (250.x0) Diabetes mellitus type 2
    Diabetes mellitus type 2
    Diabetes mellitus type 2formerly non-insulin-dependent diabetes mellitus or adult-onset diabetesis a metabolic disorder that is characterized by high blood glucose in the context of insulin resistance and relative insulin deficiency. Diabetes is often initially managed by increasing exercise and...
    
    
  • (250.x1) Diabetes mellitus type 1
    Diabetes mellitus type 1
    Diabetes mellitus type 1 is a form of diabetes mellitus that results from autoimmune destruction of insulin-producing beta cells of the pancreas. The subsequent lack of insulin leads to increased blood and urine glucose...
    
    
  • (250.x2) Diabetes mellitus type 2
    Diabetes mellitus type 2
    Diabetes mellitus type 2formerly non-insulin-dependent diabetes mellitus or adult-onset diabetesis a metabolic disorder that is characterized by high blood glucose in the context of insulin resistance and relative insulin deficiency. Diabetes is often initially managed by increasing exercise and...
    
    , uncontrolled
  • (250.x3) Diabetes mellitus type 1
    Diabetes mellitus type 1
    Diabetes mellitus type 1 is a form of diabetes mellitus that results from autoimmune destruction of insulin-producing beta cells of the pancreas. The subsequent lack of insulin leads to increased blood and urine glucose...
    
    , uncontrolled
• Secondary diabetes mellitus
  • Secondary diabetes mellitus
    Diabetes mellitus
    Diabetes mellitus, often simply referred to as diabetes, is a group of metabolic diseases in which a person has high blood sugar, either because the body does not produce enough insulin, or because cells do not respond to the insulin that is produced...
    
     without mention of complication
    Complication (medicine)
    Complication, in medicine, is an unfavorable evolution of a disease, a health condition or a medical treatment. The disease can become worse in its severity or show a higher number of signs, symptoms or new pathological changes, become widespread throughout the body or affect other organ systems. A...
    
    
  • Secondary diabetes mellitus with ketoacidosis
  • Secondary diabetes mellitus with hyperosmolarity
  • Secondary diabetes mellitus with other coma
  • Secondary diabetes mellitus with renal manifestations
  • Secondary diabetes mellitus with ophthalmic manifestations
  • Secondary diabetes mellitus with neurological manifestations
  • Secondary diabetes mellitus with peripheral circulatory disorders
  • Secondary diabetes mellitus with other specified manifestations
  • Secondary diabetes mellitus with unspecified complications
• Diabetes mellitus
  Diabetes mellitus
  Diabetes mellitus, often simply referred to as diabetes, is a group of metabolic diseases in which a person has high blood sugar, either because the body does not produce enough insulin, or because cells do not respond to the insulin that is produced...
  
  
  • Diabetes mellitus
    Diabetes mellitus
    Diabetes mellitus, often simply referred to as diabetes, is a group of metabolic diseases in which a person has high blood sugar, either because the body does not produce enough insulin, or because cells do not respond to the insulin that is produced...
    
     without mention of complication
    Complication (medicine)
    Complication, in medicine, is an unfavorable evolution of a disease, a health condition or a medical treatment. The disease can become worse in its severity or show a higher number of signs, symptoms or new pathological changes, become widespread throughout the body or affect other organ systems. A...
    
    
  • Diabetes with ketoacidosis
  • Diabetes with hyperosmolarity
  • Diabetes with other coma
  • Diabetes with renal manifestations
  • Diabetes with ophthalmic manifestations
  • Diabetes with neurological manifestations
  • Diabetes with peripheral circulatory disorders
  • Diabetes with other specified manifestations
  • Diabetes with unspecified complication
• Other disorders of pancreatic internal secretion
  • Hypoglycemia, nondiabetic, unspec.
    Hypoglycemia
    Hypoglycemia or hypoglycæmia is the medical term for a state produced by a lower than normal level of blood glucose. The term literally means "under-sweet blood"...
    
    
• Disorders of parathyroid gland
  Parathyroid gland
  The parathyroid glands are small endocrine glands in the neck that produce parathyroid hormone. Humans usually have four parathyroid glands, which are usually located on the rear surface of the thyroid gland, or, in rare cases, within the thyroid gland itself or in the chest...
  
  
  • Hyperparathyroidism, unspec.
    Hyperparathyroidism
    Hyperparathyroidism is overactivity of the parathyroid glands resulting in excess production of parathyroid hormone . The parathyroid hormone regulates calcium and phosphate levels and helps to maintain these levels...
    
    
    • Hyperparathyroidism, primary
      Hyperparathyroidism
      Hyperparathyroidism is overactivity of the parathyroid glands resulting in excess production of parathyroid hormone . The parathyroid hormone regulates calcium and phosphate levels and helps to maintain these levels...
      
      
  • Hypoparathyroidism
    Hypoparathyroidism
    Hypoparathyroidism is decreased function of the parathyroid glands with under production of parathyroid hormone. This can lead to low levels of calcium in the blood, often causing cramping and twitching of muscles or tetany , and several other symptoms...
    
    
• Disorders of the pituitary gland
  Pituitary gland
  In vertebrate anatomy the pituitary gland, or hypophysis, is an endocrine gland about the size of a pea and weighing 0.5 g , in humans. It is a protrusion off the bottom of the hypothalamus at the base of the brain, and rests in a small, bony cavity covered by a dural fold...
  
   and its hypothalamic control
  • Growth hormone deficiency
    Growth hormone deficiency
    Growth hormone deficiency is a medical condition in which the body does not produce enough growth hormone . Growth hormone, also called somatotropin, is a polypeptide hormone which stimulates growth and cell reproduction...
    
    
  • SIADH
• Diseases of thymus gland
• Disorders of adrenal glands
  • Cushing's syndrome
    Cushing's syndrome
    Cushing's syndrome is a hormone disorder caused by high levels of cortisol in the blood. This can be caused by taking glucocorticoid drugs, or by tumors that produce cortisol or adrenocorticotropic hormone or CRH...
    
    
• Ovarian dysfunction
  • Ovarian failure, postablative
    • Ovarian failure, other
  • Ovaries, polycystic
    Polycystic ovary syndrome
    Polycystic ovary syndrome is one of the most common female endocrine disorders. PCOS is a complex, heterogeneous disorder of uncertain aetiology, but there is strong evidence that it can to a large degree be classified as a genetic disease....
    
    
• Testicular dysfunction
  • Testicular hypofunction
• Polyglandular dysfunction and related disorders
• Other endocrine disorders
  • Puberty, delayed
    Delayed puberty
    Puberty is described as delayed puberty with exceptions when an organism has passed the usual age of onset of puberty with no physical or hormonal signs that it is beginning. Puberty may be delayed for several years and still occur normally, in which case it is considered constitutional delay, a...
    
    
  • Sexual precocity
    Precocious puberty
    As a medical term, precocious puberty describes puberty occurring at an unusually early age. In most of these children, the process is normal in every respect except the unusually early age, and simply represents a variation of normal development. In a minority of children, the early development is...
    
    

Nutritional deficiencies (260–269)

• Kwashiorkor
  Kwashiorkor
  Kwashiorkor is an acute form of childhood protein-energy malnutrition characterized by edema, irritability, anorexia, ulcerating dermatoses, and an enlarged liver with fatty infiltrates. The presence of edema caused by poor nutrition defines kwashiorkor...
  
  
• Nutritional marasmus
  Marasmus
  Marasmus is a form of severe protein-energy malnutrition characterized by energy deficiency.A child with marasmus looks emaciated. Body weight may be reduced to less than 80% of the average weight that corresponds to the height . Marasmus occurrence increases prior to age 1, whereas kwashiorkor...
  
  
• Other severe protein-calorie malnutrition
• Other and unspecified protein-calorie malnutrition
• Vitamin A
  Vitamin A
  Vitamin A is a vitamin that is needed by the retina of the eye in the form of a specific metabolite, the light-absorbing molecule retinal, that is necessary for both low-light and color vision...
  
   deficiency
  • With conjunctival xerosis
    Xerosis
    Xerosis cutis is the medical term for dry skin.It can have many different causes, including general dehydration, atopic dermatitis, Vitamin A deficiency, and maybe diabetes. Treatment is primarily symptomatic. "Xero", meaning dry or dehydrated, "osis" usually referring to a medical disease or...
    
    
  • With conjunctival xerosis
    Xerosis
    Xerosis cutis is the medical term for dry skin.It can have many different causes, including general dehydration, atopic dermatitis, Vitamin A deficiency, and maybe diabetes. Treatment is primarily symptomatic. "Xero", meaning dry or dehydrated, "osis" usually referring to a medical disease or...
    
     and Bitot's spot
  • With corneal xerosis
    Xerosis
    Xerosis cutis is the medical term for dry skin.It can have many different causes, including general dehydration, atopic dermatitis, Vitamin A deficiency, and maybe diabetes. Treatment is primarily symptomatic. "Xero", meaning dry or dehydrated, "osis" usually referring to a medical disease or...
    
    
  • With corneal ulcer
    Corneal ulcer
    A corneal ulcer, or ulcerative keratitis, is an inflammatory condition of the cornea involving loss of its outer layer. It is very common in dogs and is sometimes seen in cats...
    
    ation and xerosis
    Xerosis
    Xerosis cutis is the medical term for dry skin.It can have many different causes, including general dehydration, atopic dermatitis, Vitamin A deficiency, and maybe diabetes. Treatment is primarily symptomatic. "Xero", meaning dry or dehydrated, "osis" usually referring to a medical disease or...
    
    
  • With keratomalacia
    Keratomalacia
    Keratomalacia is an eye disorder that leads to a dry cornea. One of its major causes is Vitamin A deficiency. When xerophthalmia persists for a long time, it results in keratomalacia. There is degradation of corneal epithelium which may also get vascularised. Later corneal opacities develop...
    
    
  • With night blindness
  • With xerophthalmic scars of cornea
    Cornea
    The cornea is the transparent front part of the eye that covers the iris, pupil, and anterior chamber. Together with the lens, the cornea refracts light, with the cornea accounting for approximately two-thirds of the eye's total optical power. In humans, the refractive power of the cornea is...
    
    
  • Other ocular manifestations of vitamin A
    Vitamin A
    Vitamin A is a vitamin that is needed by the retina of the eye in the form of a specific metabolite, the light-absorbing molecule retinal, that is necessary for both low-light and color vision...
    
     deficiency
  • Other manifestations of vitamin A
    Vitamin A
    Vitamin A is a vitamin that is needed by the retina of the eye in the form of a specific metabolite, the light-absorbing molecule retinal, that is necessary for both low-light and color vision...
    
     deficiency
  • Unspecified vitamin A
    Vitamin A
    Vitamin A is a vitamin that is needed by the retina of the eye in the form of a specific metabolite, the light-absorbing molecule retinal, that is necessary for both low-light and color vision...
    
     deficiency
• Thiamine
  Thiamine
  Thiamine or thiamin or vitamin B1 , named as the "thio-vitamine" is a water-soluble vitamin of the B complex. First named aneurin for the detrimental neurological effects if not present in the diet, it was eventually assigned the generic descriptor name vitamin B1. Its phosphate derivatives are...
  
   and niacin
  Niacin
  "Niacin" redirects here. For the neo-fusion band, see Niacin .Niacin is an organic compound with the formula and, depending on the definition used, one of the forty to eighty essential human nutrients.Niacin is one of five vitamins associated with a pandemic deficiency disease: niacin deficiency...
  
   deficiency states
  • Beriberi
    Beriberi
    Beriberi is a nervous system ailment caused by a thiamine deficiency in the diet. Thiamine is involved in the breakdown of energy molecules such as glucose and is also found on the membranes of neurons...
    
    
  • Other and unspecified manifestations of thiamine
    Thiamine
    Thiamine or thiamin or vitamin B1 , named as the "thio-vitamine" is a water-soluble vitamin of the B complex. First named aneurin for the detrimental neurological effects if not present in the diet, it was eventually assigned the generic descriptor name vitamin B1. Its phosphate derivatives are...
    
     deficiency
    • Wernicke's encephalopathy
      Wernicke's encephalopathy
      Wernicke encephalopathy is a syndrome characterised by ataxia, ophthalmoplegia, confusion, and impairment of short-term memory.It is caused by lesions in the medial thalamic nuclei, mammillary bodies, periaqueductal and periventricular brainstem nuclei, and superior cerebellar vermis, often...
      
      
  • Pellagra
    Pellagra
    Pellagra is a vitamin deficiency disease most commonly caused by a chronic lack of niacin in the diet. It can be caused by decreased intake of niacin or tryptophan, and possibly by excessive intake of leucine. It may also result from alterations in protein metabolism in disorders such as carcinoid...
    
    
• Deficiency of B-complex components
  • Ariboflavinosis
    Ariboflavinosis
    Ariboflavinosis is the medical condition caused by deficiency of riboflavin . Ariboflavinosis is most often seen in association with protein-energy malnutrition, and also in cases of alcoholism....
    
    
  • B12
    Vitamin B12
    Vitamin B12, vitamin B12 or vitamin B-12, also called cobalamin, is a water-soluble vitamin with a key role in the normal functioning of the brain and nervous system, and for the formation of blood. It is one of the eight B vitamins...
    
     deficiency w/o anemia
    Anemia
    Anemia is a decrease in number of red blood cells or less than the normal quantity of hemoglobin in the blood. However, it can include decreased oxygen-binding ability of each hemoglobin molecule due to deformity or lack in numerical development as in some other types of hemoglobin...
    
    
• Ascorbic acid deficiency
• Vitamin D deficiency
• Other nutritional deficiencies
  • Deficiency of vitamin K
    Vitamin K
    Vitamin K is a group of structurally similar, fat soluble vitamins that are needed for the posttranslational modification of certain proteins required for blood coagulation and in metabolic pathways in bone and other tissue. They are 2-methyl-1,4-naphthoquinone derivatives...
    
    
  • Deficiency of other vitamins
  • Unspecified vitamin deficiency
  • Mineral deficiency
    Mineral deficiency
    Mineral deficiency refers to a hypoalimentation of dietary minerals.Examples include:* Zinc deficiency* Iron deficiency* Magnesium deficiency...
    
    , not elsewhere classified

Disorders of amino-acid transport and metabolism

• Disorders of amino-acid transport
  Transport
  Transport or transportation is the movement of people, cattle, animals and goods from one location to another. Modes of transport include air, rail, road, water, cable, pipeline, and space. The field can be divided into infrastructure, vehicles, and operations...
  
   and metabolism
  Metabolism
  Metabolism is the set of chemical reactions that happen in the cells of living organisms to sustain life. These processes allow organisms to grow and reproduce, maintain their structures, and respond to their environments. Metabolism is usually divided into two categories...
  
  
  • Disturbances of amino-acid transport
    Transport
    Transport or transportation is the movement of people, cattle, animals and goods from one location to another. Modes of transport include air, rail, road, water, cable, pipeline, and space. The field can be divided into infrastructure, vehicles, and operations...
    
    
    • Cystinosis
      Cystinosis
      Cystinosis is a lysosomal storage disease characterized by the abnormal accumulation of the amino acid cystine. It is a genetic disorder that typically follows an autosomal recessive inheritance pattern. Cystinosis is the most common cause of Fanconi syndrome in the pediatric age group...
      
      
    • Cystinuria
      Cystinuria
      Cystinuria is an inherited autosomal recessive disease that is characterized by the formation of cystine stones in the kidneys, ureter, and bladder.-Signs and symptoms:Cystinuria is a cause of persistent kidney stones...
      
      
    • Hartnup disease
      Hartnup disease
      Hartnup disease is an autosomal recessive metabolic disorder affecting the absorption of nonpolar amino acids...
      
      
  • Phenylketonuria
    Phenylketonuria
    Phenylketonuria is an autosomal recessive metabolic genetic disorder characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase , rendering it nonfunctional. This enzyme is necessary to metabolize the amino acid phenylalanine to the amino acid tyrosine...
    
     (PKU)
  • Tetrahydrobiopterin deficiency
    Tetrahydrobiopterin deficiency
    Tetrahydrobiopterin deficiency , also called THB or BH4 deficiency, is a rare metabolic disorder that increases the blood levels of phenylalanine. Phenylalanine is an amino acid obtained through the diet. It is found in all proteins and in some artificial sweeteners...
    
    
  • Other disturbances of aromatic amino-acid metabolism
    Metabolism
    Metabolism is the set of chemical reactions that happen in the cells of living organisms to sustain life. These processes allow organisms to grow and reproduce, maintain their structures, and respond to their environments. Metabolism is usually divided into two categories...
    
    
    • Albinism
      Albinism
      Albinism is a congenital disorder characterized by the complete or partial absence of pigment in the skin, hair and eyes due to absence or defect of an enzyme involved in the production of melanin...
      
      
    • Alkaptonuria
      Alkaptonuria
      Alkaptonuria is a rare inherited genetic disorder of phenylalanine and tyrosine metabolism. This is an autosomal recessive condition that is due to a defect in the enzyme homogentisate 1,2-dioxygenase , which participates in the degradation of tyrosine...
      
      
    • Hypertyrosinemia
    • Ochronosis
      Ochronosis
      Ochronosis is the syndrome caused by the accumulation of homogentisic acid in connective tissues. The phenomenon was first described by Rudolf Virchow in 1865. The condition was named after the yellowish discoloration of the tissue seen on microscopic examination...
      
      
    • Waardenburg syndrome
      Waardenburg syndrome
      Waardenburg syndrome Waardenburg syndrome Waardenburg syndrome (also Waardenburg­ Shah Syndrome, Waardenburg-Klein syndrome, Mende's syndrome II, Van der Hoeve-Halbertsma-Waardenburg syndrome, Ptosis-Epicanthus syndrome, Van der Hoeve-Halbertsma-Gualdi syndrome, Waardenburg type Pierpont,[5] Van...
      
      
  • Disturbances of branched-chain amino-acid metabolism
    Metabolism
    Metabolism is the set of chemical reactions that happen in the cells of living organisms to sustain life. These processes allow organisms to grow and reproduce, maintain their structures, and respond to their environments. Metabolism is usually divided into two categories...
    
    
    • Isobutyryl-coenzyme A dehydrogenase deficiency
      Isobutyryl-coenzyme A dehydrogenase deficiency
      Isobutyryl-coenzyme A dehydrogenase deficiency, commonly known as IBD deficiency, is a rare metabolic disorder in which the body is unable to process certain amino acids properly....
      
      
    • Isovaleric acidemia
      Isovaleric acidemia
      Isovaleric acidemia, also called isovaleric aciduria or isovaleric acid CoA dehydrogenase deficiency, is a rare autosomal recessive metabolic disorder which disrupts or prevents normal metabolism of the branched-chain amino acid leucine...
      
      
    • Maple syrup urine disease
      Maple syrup urine disease
      Maple syrup urine disease , also called branched-chain ketoaciduria, is an autosomal recessive metabolic disorder affecting branched-chain amino acids. It is one type of organic acidemia...
      
      
    • Methylmalonic acidemia
      Methylmalonic acidemia
      Methylmalonic acidemia , also called methylmalonic aciduria, is an autosomal recessive metabolic disorder. It is a classical type of organic acidemia....
      
      
    • Propionic acidemia
      Propionic acidemia
      Propionic acidemia, also known as propionic aciduria, propionyl-CoA carboxylase deficiency and ketotic glycinemia, is an autosomal recessive metabolic disorder, classified as a branched-chain organic acidemia....
      
      
  • Disturbances of sulphur-bearing amino-acid metabolism
    Metabolism
    Metabolism is the set of chemical reactions that happen in the cells of living organisms to sustain life. These processes allow organisms to grow and reproduce, maintain their structures, and respond to their environments. Metabolism is usually divided into two categories...
    
    
    • Homocystinuria
      Homocystinuria
      Homocystinuria, also known as cystathionine beta synthase deficiency or CBS deficiency, is an inherited disorder of the metabolism of the amino acid methionine, often involving cystathionine beta synthase...
      
      
  • Disorders of histidine
    Histidine
    Histidine Histidine, an essential amino acid, has a positively charged imidazole functional group. It is one of the 22 proteinogenic amino acids. Its codons are CAU and CAC. Histidine was first isolated by German physician Albrecht Kossel in 1896. Histidine is an essential amino acid in humans...
    
     metabolism
    Metabolism
    Metabolism is the set of chemical reactions that happen in the cells of living organisms to sustain life. These processes allow organisms to grow and reproduce, maintain their structures, and respond to their environments. Metabolism is usually divided into two categories...
    
    
    • Carnosinemia
      Carnosinemia
      Carnosinemia, also called carnosinase deficiency or aminoacyl-histidine dipeptidase deficiency, is a rare autosomal recessive metabolic disorder caused by a deficiency of carnosinase, a dipeptidase .Carnosine is a dipeptide composed of beta-alanine and histidine, and is found in skeletal...
      
      
    • Histidinemia
      Histidinemia
      Histidinemia, also referred to as histidinuria, is a rare autosomal recessive metabolic disorder caused by a deficiency of the enzyme histidase. Histidase is needed for the metabolism of the amino acid histidine.-Diagnosis and symptoms:...
      
      
    • Hyperhistidinemia
    • Imidazole aminoaciduria
    • Urocanic aciduria
      Urocanic aciduria
      Urocanic aciduria, also called urocanate hydratase deficiency or urocanase deficiency, is an autosomal recessive metabolic disorder caused by a deficiency of the enzyme urocanase. It is a secondary disorder of histidine metabolism.-Pathophysiology:...
      
      
  • Disorders of urea cycle
    Urea cycle
    The urea cycle is a cycle of biochemical reactions occurring in many animals that produces urea from ammonia . This cycle was the first metabolic cycle discovered , five years before the discovery of the TCA cycle...
    
     metabolism
    Metabolism
    Metabolism is the set of chemical reactions that happen in the cells of living organisms to sustain life. These processes allow organisms to grow and reproduce, maintain their structures, and respond to their environments. Metabolism is usually divided into two categories...
    
    
    • Citrullinemia
      Citrullinemia
      Citrullinemia, also called citrullinuria, is an autosomal recessive urea cycle disorder that causes ammonia and other toxic substances to accumulate in the blood....
      
      
    • Hyperammonemia
      Hyperammonemia
      Hyperammonemia is a metabolic disturbance characterised by an excess of ammonia in the blood. It is a dangerous condition that may lead to encephalopathy and death. It may be primary or secondary....
      
      
  • Disorders of straight-chain amino-acid metabolism
    Metabolism
    Metabolism is the set of chemical reactions that happen in the cells of living organisms to sustain life. These processes allow organisms to grow and reproduce, maintain their structures, and respond to their environments. Metabolism is usually divided into two categories...
    
    
    • Hyperlysinemia
      Hyperlysinemia
      Hyperlysinemia is an autosomal recessive metabolic disorder characterized by an abnormal increase of lysine in the blood, but appears to be benign. It can be associated with saccharopine dehydrogenase.- Genetics :...
      
      
    • Pipecolic acidemia
      Pipecolic acidemia
      Pipecolic acidemia, also called hyperpipecolic acidemia or hyperpipecolatemia, is a very rare autosomal recessive metabolic disorder that is caused by a peroxisomal defect....
      
      
    • Saccharopinuria
      Saccharopinuria
      Saccharopinuria , also called saccharopinemia, saccharopine dehydrogenase deficiency or alpha-aminoadipic semialdehyde synthase deficiency, is a variant form of hyperlysinemia. It is caused by a partial deficiency of the enzyme saccharopine dehydrogenase, which plays a secondary role in the lysine...
      
      
  • Other specified disorders of amino-acid metabolism
    • Trimethylaminuria
      Trimethylaminuria
      Trimethylaminuria , also known as fish odor syndrome or fish malodor syndrome, is a rare metabolic disorder that causes a defect in the normal production of the enzyme Flavin containing monooxygenase 3...
      
      

Disorders of carbohydrate transport and metabolism

• Disorders of carbohydrate
  Carbohydrate
  A carbohydrate is an organic compound with the empirical formula ; that is, consists only of carbon, hydrogen, and oxygen, with a hydrogen:oxygen atom ratio of 2:1 . However, there are exceptions to this. One common example would be deoxyribose, a component of DNA, which has the empirical...
  
   transport
  Transport
  Transport or transportation is the movement of people, cattle, animals and goods from one location to another. Modes of transport include air, rail, road, water, cable, pipeline, and space. The field can be divided into infrastructure, vehicles, and operations...
  
   and metabolism
  Metabolism
  Metabolism is the set of chemical reactions that happen in the cells of living organisms to sustain life. These processes allow organisms to grow and reproduce, maintain their structures, and respond to their environments. Metabolism is usually divided into two categories...
  
  
  • Glycogenosis
    • von Gierke's disease
    • McArdle's disease
    • Pompe's disease
  • Galactosemia
    Galactosemia
    Galactosemia is a rare genetic metabolic disorder that affects an individual's ability to metabolize the sugar galactose properly. Although the sugar lactose can metabolize to galactose, galactosemia is not related to and should not be confused with lactose intolerance...
    
    
  • Hereditary fructose intolerance
    Fructose intolerance
    Hereditary fructose intolerance or fructose poisoning is a hereditary condition caused by a deficiency of liver enzymes that metabolise fructose...
    
    
  • Intestinal disaccharidase
    Disaccharidase
    Disaccharidases are a type of glycoside hydrolases, enzymes that break down disaccharides into monosaccharides.-Examples of disaccharidases:* Lactase * Maltase...
    
     deficiencies and disaccharide
    Disaccharide
    A disaccharide or biose is the carbohydrate formed when two monosaccharides undergo a condensation reaction which involves the elimination of a small molecule, such as water, from the functional groups only. Like monosaccharides, disaccharides form an aqueous solution when dissolved in water...
    
     malabsorption
    Malabsorption
    Malabsorption is a state arising from abnormality in absorption of food nutrients across the gastrointestinal tract.Impairment can be of single or multiple nutrients depending on the abnormality...
    
    
    • Lactose intolerance
      Lactose intolerance
      Lactose intolerance, also called lactase deficiency or hypolactasia, is the inability to digest and metabolize lactose, a sugar found in milk...
      
      
    • Glucose intolerance
      Impaired glucose tolerance
      Impaired glucose tolerance is a pre-diabetic state of dysglycemia that is associated with insulin resistance and increased risk of cardiovascular pathology. IGT may precede type 2 diabetes mellitus by many years...
      
      
  • Renal glycosuria
    Glycosuria
    Glycosuria or glucosuria is the excretion of glucose into the urine. Ordinarily, urine contains no glucose because the kidneys are able to reclaim all of the filtered glucose back into the bloodstream. Glycosuria is nearly always caused by elevated blood glucose levels, most commonly due to...
    
    
  • Other specified disorders of carbohydrate transport and metabolism
  • Unspecified disorder of carbohydrate transport and metabolism

Disorders of lipoid metabolism

• Disorders of lipoid metabolism
  Dyslipidemia
  Dyslipidemia or dyslipidaemia is an abnormal amount of lipids in the blood. In developed countries, most dyslipidemias are hyperlipidemias; that is, an elevation of lipids in the blood, often due to diet and lifestyle. The prolonged elevation of insulin levels can lead to dyslipidemia...
  
  
  • Pure hypercholesterolemia
    Hypercholesterolemia
    Hypercholesterolemia is the presence of high levels of cholesterol in the blood. It is not a disease but a metabolic derangement that can be caused by many diseases, notably cardiovascular disease...
    
    
    • Fredrickson Type IIa hyperlipoproteinemia
    • Familial hypercholesterolemia
      Familial hypercholesterolemia
      Familial hypercholesterolemia is a genetic disorder characterized by high cholesterol levels, specifically very high levels of low-density lipoprotein , in the blood and early cardiovascular disease...
      
      
  • Pure hyperglyceridemia
    • Hypertriglyceridemia
      Hypertriglyceridemia
      In medicine, hypertriglyceridemia denotes high blood levels of triglycerides, the most abundant fatty molecule in most organisms. It has been associated with atherosclerosis, even in the absence of hypercholesterolemia . It can also lead to pancreatitis in excessive concentrations In medicine,...
      
      , essential
    • Fredrickson Type IV hyperlipoproteinemia
  • Hyperlipidemia
    Hyperlipidemia
    Hyperlipidemia, hyperlipoproteinemia, or hyperlipidaemia is the condition of abnormally elevated levels of any or all lipids and/or lipoproteins in the blood...
    
    , mixed
    • Fredrickson Type IIb or III hyperlipoproteinemia
    • Tubo-eruptive xanthoma
    • Xanthoma tuberosum
  • Hyperchylomicronemia
    • Bürger-Grütz syndrome
    • Fredrickson type I or V hyperlipoproteinemia
    • Hyperlipidemia
      Hyperlipidemia
      Hyperlipidemia, hyperlipoproteinemia, or hyperlipidaemia is the condition of abnormally elevated levels of any or all lipids and/or lipoproteins in the blood...
      
      , Group D
    • Mixed hyperglyceridemia
  • Other and unspecified hyperlipidemia
    Hyperlipidemia
    Hyperlipidemia, hyperlipoproteinemia, or hyperlipidaemia is the condition of abnormally elevated levels of any or all lipids and/or lipoproteins in the blood...
    
    
    • Alpha-lipoproteinemia
    • Combined hyperlipidemia
      Combined hyperlipidemia
      In medicine, combined hyperlipidemia is a commonly occurring form of hypercholesterolemia characterised by increased LDL and triglyceride concentrations, often accompanied by decreased HDL...
      
      
  • Lipoprotein
    Lipoprotein
    A lipoprotein is a biochemical assembly that contains both proteins and lipids water-bound to the proteins. Many enzymes, transporters, structural proteins, antigens, adhesins, and toxins are lipoproteins...
    
     deficiencies
    • Abetalipoproteinemia
      Abetalipoproteinemia
      Abetalipoproteinemia, or Bassen-Kornzweig syndrome, is a rare autosomal recessive disorder that interferes with the normal absorption of fat and fat-soluble vitamins from food. It is caused by a deficiency of apolipoprotein B-48 and B-100, which are used in the synthesis and exportation of...
      
      
    • Bassen-Kornzweig syndrome
    • High-density lipoid deficiency
    • Hypoalphalipoproteinemia
      Hypoalphalipoproteinemia
      Hypoalphalipoproteinemia is a high-density lipoprotein deficiency, inherited in an autosomal dominant manner.It can be associated with LDL receptor.Associated regions and genes include:Niacin is sometimes prescribed to raise HDL levels....
      
      
    • Hypobetalipoproteinemia
      Hypobetalipoproteinemia
      Hypobetalipoproteinemia is a disorder consisting of low levels of LDL cholesterol or apolipoprotein B, below the 5th percentile. The patient can have hypobetalipoproteinemia and simultaneously have high levels of HDL cholesterol....
      
       (familial)
  • Lipodystrophy
    Lipodystrophy
    Lipodystrophy is a medical condition characterized by abnormal or degenerative conditions of the body's adipose tissue. A more specific term, lipoatrophy is used when describing the loss of fat from one area...
    
    
  • Lipidoses
    • Gaucher's disease
      Gaucher's disease
      Gaucher's disease is a genetic disease in which a fatty substance accumulates in cells and certain organs.Gaucher's disease is the most common of the lysosomal storage diseases. It is caused by a hereditary deficiency of the enzyme glucosylceramidase. The enzyme acts on the fatty acid...
      
      
    • Niemann-Pick disease
      Niemann-Pick disease
      Niemann–Pick disease refers to a group of fatal inherited metabolic disorders that are included in the larger family of lysosomal storage diseases .-Signs and symptoms:Symptoms are related to the organs in which they accumulate...
      
      
    • Sea-blue histiocyte syndrome
  • Other disorders of lipoid metabolism

Disorders of plasma protein metabolism

• Disorders of plasma protein metabolism
  Metabolism
  Metabolism is the set of chemical reactions that happen in the cells of living organisms to sustain life. These processes allow organisms to grow and reproduce, maintain their structures, and respond to their environments. Metabolism is usually divided into two categories...
  
  
  • Polyclonal hypergammaglobulinemia
    Hypergammaglobulinemia
    Hypergammaglobulinemia is a medical condition with elevated levels of gamma globulin.It is a type of immunoproliferative disorder.- Types :...
    
    
  • Monoclonal
    Monoclonal
    Monoclonal cells are defined as a group of cells produced from a single ancestral cell by repeated cellular replication. Thus they can be said to form a single "clone". The process of replication can occur in vivo, or may be stimulated in vitro for laboratory manipulations...
    
     paraproteinemia
    Paraproteinemia
    Paraproteinemia, or monoclonal gammopathy, is the presence of excessive amounts of a single monoclonal gammaglobulin in the blood...
    
    
  • Other paraproteinemias
  • Macroglobulinemia
    Macroglobulinemia
    Macroglobulinemia is the presence of increased levels of macroglobulins in the circulating blood.A plasma cell dyscrasia resembling leukemia with cells of lymphocytic, plasmacytic, or intermediate morphology, which secrete an immunoglobulin M monoclonal component. There is diffuse infiltration of...
    
    
    • Waldenström macroglobulinemia
      Waldenström macroglobulinemia
      Waldenström's macroglobulinemia is cancer involving a subtype of white blood cells called lymphocytes. The main attributing antibody is Immunoglobulin M . WM is an "indolent lymphoma,"...
      
      
  • Other disorders of plasma protein metabolism
    • Atransferrinemia
      Atransferrinemia
      Atransferrinemia, also called familial hypotransferrinemia, is an autosomal recessive metabolic disorder in which there is an absence of transferrin, a plasma protein that transports iron through the blood....
      
      

Disorders of mineral metabolism

• Disorders of mineral metabolism
  • Disorders of iron
    Iron
    Iron is a chemical element with the symbol Fe and atomic number 26. It is a metal in the first transition series. It is the most common element forming the planet Earth as a whole, forming much of Earth's outer and inner core. It is the fourth most common element in the Earth's crust...
    
     metabolism
    Metabolism
    Metabolism is the set of chemical reactions that happen in the cells of living organisms to sustain life. These processes allow organisms to grow and reproduce, maintain their structures, and respond to their environments. Metabolism is usually divided into two categories...
    
    
    • Aceruloplasminemia
      Aceruloplasminemia
      Aceruloplasminemia is an autosomal recessive disorder of iron metabolism characterized by progressive neurodegeneration of the retina and basal ganglia and diabetes mellitus....
      
      
    • Hemochromatosis
  • Disorders of copper
    Copper
    Copper is a chemical element with the symbol Cu and atomic number 29. It is a ductile metal with very high thermal and electrical conductivity. Pure copper is soft and malleable; an exposed surface has a reddish-orange tarnish...
    
     metabolism
    Metabolism
    Metabolism is the set of chemical reactions that happen in the cells of living organisms to sustain life. These processes allow organisms to grow and reproduce, maintain their structures, and respond to their environments. Metabolism is usually divided into two categories...
    
    
    • Wilson's disease
      Wilson's disease
      Wilson's disease or hepatolenticular degeneration is an autosomal recessive genetic disorder in which copper accumulates in tissues; this manifests as neurological or psychiatric symptoms and liver disease...
      
      
  • Disorders of magnesium
    Magnesium
    Magnesium is a chemical element with the symbol Mg, atomic number 12, and common oxidation number +2. It is an alkaline earth metal and the eighth most abundant element in the Earth's crust and ninth in the known universe as a whole...
    
     metabolism
    Metabolism
    Metabolism is the set of chemical reactions that happen in the cells of living organisms to sustain life. These processes allow organisms to grow and reproduce, maintain their structures, and respond to their environments. Metabolism is usually divided into two categories...
    
    
    • Hypermagnesemia
      Hypermagnesemia
      Hypermagnesemia is an electrolyte disturbance in which there is an abnormally elevated level of magnesium in the blood. Usually this results in excess of magnesium in the body....
      
      
    • Hypomagnesemia
      Hypomagnesemia
      Hypomagnesemia is an electrolyte disturbance in which there is an abnormally low level of magnesium in the blood. Usually a serum level less than 0.7 mmol/L is used as reference. The prefix hypo- means low . The middle 'magnes' refers to magnesium...
      
      
  • Disorders of phosphorus
    Phosphorus
    Phosphorus is the chemical element that has the symbol P and atomic number 15. A multivalent nonmetal of the nitrogen group, phosphorus as a mineral is almost always present in its maximally oxidized state, as inorganic phosphate rocks...
    
     metabolism
    Metabolism
    Metabolism is the set of chemical reactions that happen in the cells of living organisms to sustain life. These processes allow organisms to grow and reproduce, maintain their structures, and respond to their environments. Metabolism is usually divided into two categories...
    
    
    • Familial hypophosphatemia
      Hypophosphatemia
      Hypophosphatemia is an electrolyte disturbance in which there is an abnormally low level of phosphate in the blood. The condition has many causes, but is most commonly seen when malnourished patients are given large amounts of carbohydrates, which creates a high phosphorus demand by cells,...
      
      
    • Hypophosphatasia
      Hypophosphatasia
      Hypophosphatasia is a rare, and sometimes fatal metabolic bone disease. Clinical symptoms are heterogeneous ranging from the rapidly fatal perinatal variant, with profound skeletal hypomineralization and respiratory compromise to a milder, progressive osteomalacia later in life...
      
      
  • Disorders of calcium metabolism
    Calcium metabolism
    Calcium metabolism or calcium homeostasis is the mechanism by which the body maintains adequate calcium levels. Derangements of this mechanism lead to hypercalcemia or hypocalcemia, both of which can have important consequences for health....
    
    
    • Hypocalcemia
    • Hypercalcemia
    • Pseudohypoparathyroidism
      Pseudohypoparathyroidism
      Pseudohypoparathyroidism is a condition associated primarily with resistance to the parathyroid hormone. Patients have a low serum calcium and high phosphate, but the parathyroid hormone level is actually appropriately high...
      
      

Disorders of fluid, electrolyte, and acid-base balance

• Disorders of fluid
  Fluid
  In physics, a fluid is a substance that continually deforms under an applied shear stress. Fluids are a subset of the phases of matter and include liquids, gases, plasmas and, to some extent, plastic solids....
  
  , electrolyte
  Electrolyte
  In chemistry, an electrolyte is any substance containing free ions that make the substance electrically conductive. The most typical electrolyte is an ionic solution, but molten electrolytes and solid electrolytes are also possible....
  
  , and acid-base balance
  • Hypernatremia
    Hypernatremia
    Hypernatremia or hypernatraemia is an electrolyte disturbance that is defined by an elevated sodium level in the blood. Hypernatremia is generally not caused by an excess of sodium, but rather by a relative deficit of free water in the body...
    
    
  • Hyponatremia
    Hyponatremia
    Hyponatremia is an electrolyte disturbance in which the sodium concentration in the serum is lower than normal. In the vast majority of cases, hyponatremia occurs as a result of excess body water diluting the serum sodium and is not due to sodium deficiency. Sodium is the dominant extracellular...
    
    
  • Acidosis
    Acidosis
    Acidosis is an increased acidity in the blood and other body tissue . If not further qualified, it usually refers to acidity of the blood plasma....
    
    
  • Alkalosis
    Alkalosis
    Alkalosis refers to a condition reducing hydrogen ion concentration of arterial blood plasma . Generally, alkalosis is said to occur when pH of the blood exceeds 7.45. The opposite condition is acidosis .-Causes:...
    
    
  • Mixed acid-base balance disorder
  • Dehydration
    Dehydration
    In physiology and medicine, dehydration is defined as the excessive loss of body fluid. It is literally the removal of water from an object; however, in physiological terms, it entails a deficiency of fluid within an organism...
    
    
    • Hypovolemia
      Hypovolemia
      In physiology and medicine, hypovolemia is a state of decreased blood volume; more specifically, decrease in volume of blood plasma...
      
      
  • Hyperkalemia
    Hyperkalemia
    Hyperkalemia refers to the condition in which the concentration of the electrolyte potassium in the blood is elevated...
    
    
  • Hypokalemia
    Hypokalemia
    Hypokalemia or hypokalaemia , also hypopotassemia or hypopotassaemia , refers to the condition in which the concentration of potassium in the blood is low...
    
    

Other and unspecified disorders of metabolism

• Other and unspecified disorders of metabolism
  Metabolism
  Metabolism is the set of chemical reactions that happen in the cells of living organisms to sustain life. These processes allow organisms to grow and reproduce, maintain their structures, and respond to their environments. Metabolism is usually divided into two categories...
  
  
  • Cystic fibrosis
    Cystic fibrosis
    Cystic fibrosis is a recessive genetic disease affecting most critically the lungs, and also the pancreas, liver, and intestine...
    
    
  • Disorders of porphyrin
    Porphyrin
    Porphyrins are a group of organic compounds, many naturally occurring. One of the best-known porphyrins is heme, the pigment in red blood cells; heme is a cofactor of the protein hemoglobin. Porphyrins are heterocyclic macrocycles composed of four modified pyrrole subunits interconnected at...
    
     metabolism
    • Porphyria
      Porphyria
      Porphyrias are a group of inherited or acquired disorders of certain enzymes in the heme bio-synthetic pathway . They are broadly classified as acute porphyrias and cutaneous porphyrias, based on the site of the overproduction and accumulation of the porphyrins...
      
      
      • Acute intermittent porphyria
        Acute intermittent porphyria
        Acute intermittent porphyria is a rare autosomal dominant metabolic disorder affecting the production of heme, the oxygen-binding prosthetic group of hemoglobin. It is characterized by a deficiency of the enzyme porphobilinogen deaminase. Acute intermittent porphyria is the second most common...
        
        
  • Other disorders of purine
    Purine
    A purine is a heterocyclic aromatic organic compound, consisting of a pyrimidine ring fused to an imidazole ring. Purines, including substituted purines and their tautomers, are the most widely distributed kind of nitrogen-containing heterocycle in nature....
    
     and pyrimidine
    Pyrimidine
    Pyrimidine is a heterocyclic aromatic organic compound similar to benzene and pyridine, containing two nitrogen atoms at positions 1 and 3 of the six-member ring...
    
     metabolism
    Metabolism
    Metabolism is the set of chemical reactions that happen in the cells of living organisms to sustain life. These processes allow organisms to grow and reproduce, maintain their structures, and respond to their environments. Metabolism is usually divided into two categories...
    
    
    • Lesch-Nyhan syndrome
      Lesch-Nyhan syndrome
      Lesch–Nyhan syndrome , also known as Nyhan's syndrome, Kelley-Seegmiller syndrome and Juvenile gout, is a rare inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase , produced by mutations in the HPRT gene located on X chromosome. LNS affects about...
      
      
    • Purine nucleoside phosphorylase deficiency
      Purine nucleoside phosphorylase deficiency
      Purine nucleoside phosphorylase deficiency, often called PNP-deficiency, is a rare autosomal recessive metabolic disorder which results in severe combined immunodeficiency.-Signs and symptoms:...
      
      
    • Xanthinuria
      Xanthinuria
      Xanthinuria, also known as xanthine oxidase deficiency, is a rare genetic disorder causing the accumulation of xanthine. It is caused by a deficiency of the enzyme xanthine oxidase.It was first formally characterized in 1954.-Causes:...
      
      
  • Amyloidosis
    Amyloidosis
    In medicine, amyloidosis refers to a variety of conditions whereby the body produces "bad proteins", denoted as amyloid proteins, which are abnormally deposited in organs and/or tissues and cause harm. A protein is described as being amyloid if, due to an alteration in its secondary structure, it...
    
    
    • Familial Mediterranean fever
      Familial Mediterranean fever
      Familial Mediterranean fever is a hereditary inflammatory disorder. FMF is an autoinflammatory disease caused by mutations in MEFV, a gene which encodes a 781–amino acid protein denoted pyrin....
      
      
  • Hyperbilirubinemia
    • Crigler-Najjar syndrome
      Crigler-Najjar syndrome
      Crigler-Najjar Syndrome or CNS is a rare disorder affecting the metabolism of bilirubin, a chemical formed from the breakdown of blood. The disorder results in an inherited form of non-hemolytic jaundice, which results in high levels of unconjugated bilirubin and often leads to brain damage in...
      
      
    • Gilbert's syndrome
      Gilbert's syndrome
      Gilbert's syndrome , often shortened to GS, also called Gilbert-Meulengracht syndrome, is the most common hereditary cause of increased bilirubin and is found in up to 5% of the population...
      
      
  • Mucopolysaccharidosis
    Mucopolysaccharidosis
    Mucopolysaccharidoses are a group of metabolic disorders caused by the absence or malfunctioning of lysosomal enzymes needed to break down molecules called glycosaminoglycans - long chains of sugar carbohydrates in each of our cells that help build bone, cartilage, tendons, corneas, skin and...
    
    
    • Hunter's syndrome
    • Hurler's syndrome
    • Morquio-Brailsford disease
    • Sanfilippo's syndrome
  • Other deficiencies of circulating enzymes
    • Alpha 1-antitrypsin deficiency
      Alpha 1-antitrypsin deficiency
      Alpha 1-antitrypsin deficiency is an autosomal recessive genetic disorder caused by defective production of alpha 1-antitrypsin , leading to decreased A1AT activity in the blood and lungs, and deposition of excessive abnormal A1AT protein in liver cells...
      
      
    • Biotinidase deficiency
      Biotinidase deficiency
      Biotinidase deficiency is an autosomal recessive metabolic disorder in which biotin is not released from proteins in the diet during digestion or from normal protein turnover in the cell. This situation results in biotin deficiency....
      
      
    • Hereditary angioedema
      Hereditary angioedema
      Hereditary angioedema presents in the second to fourth decade, and is characterized by local swelling in subcutaneous tissues....
      
      
  • Dysmetabolic syndrome x
    • Metabolic syndrome
      Metabolic syndrome
      Metabolic syndrome is a combination of medical disorders that, when occurring together, increase the risk of developing cardiovascular disease and diabetes. It affects one in five people in the United States and prevalence increases with age...
      
      
  • Other specified disorders of metabolism
    Metabolism
    Metabolism is the set of chemical reactions that happen in the cells of living organisms to sustain life. These processes allow organisms to grow and reproduce, maintain their structures, and respond to their environments. Metabolism is usually divided into two categories...
    
    
    • Primary carnitine deficiency
      Primary carnitine deficiency
      Systemic primary carnitine deficiency , also called deficiency of plasma-membrane carnitine transporter, carnitine transporter deficiency or carnitine uptake defect , is an autosomal recessive metabolic disorder that prevents the body from using fats for energy, particularly during periods without...
      
      
    • Carnitine deficiency due to inborn errors of metabolism
    • Iatrogenic carnitine deficiency
    • Other secondary carnitine deficiency
    • Disorders of fatty acid
      Fatty acid
      In chemistry, especially biochemistry, a fatty acid is a carboxylic acid with a long unbranched aliphatic tail , which is either saturated or unsaturated. Most naturally occurring fatty acids have a chain of an even number of carbon atoms, from 4 to 28. Fatty acids are usually derived from...
      
       oxidation metabolism
      Metabolism
      Metabolism is the set of chemical reactions that happen in the cells of living organisms to sustain life. These processes allow organisms to grow and reproduce, maintain their structures, and respond to their environments. Metabolism is usually divided into two categories...
      
      
      • Carnitine palmitoyltransferase I deficiency
        Carnitine palmitoyltransferase I deficiency
        Carnitine palmitoyltransferase I deficiency is a rare metabolic disorder that prevents the body from converting certain fats called long-chain fatty acids into energy, particularly during periods without food....
        
        
      • Carnitine palmitoyltransferase II deficiency
        Carnitine palmitoyltransferase II deficiency
        Carnitine palmitoyltransferase II deficiency is a metabolic disorder characterized by an enzymatic defect that prevents long-chain fatty acids from being transported into the mitochondria for utilization as an energy source....
        
        
      • Very long-chain acyl-coenzyme A dehydrogenase deficiency
        Very long-chain acyl-coenzyme A dehydrogenase deficiency
        Very long-chain acyl-coenzyme A dehydrogenase deficiency is a fatty acid oxidation disorder which prevents the body from converting certain fats to energy, particularly during periods without food....
        
        
      • Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
        Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
        Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency, often shortened to LCHAD deficiency, is a rare autosomal recessive fatty acid oxidation disorder that prevents the body from converting certain fats into energy...
        
        
      • Medium-chain acyl-coenzyme A dehydrogenase deficiency
        Medium-chain acyl-coenzyme A dehydrogenase deficiency
        Medium-chain acyl-coenzyme A dehydrogenase deficiency is a fatty acid oxidation disorder associated with inborn errors of metabolism. It is due to defects in the enzyme complex known as medium-chain acyl dehydrogenase and reduced activity of this complex...
        
        
    • Disorders of peroxisomal metabolism
      Metabolism
      Metabolism is the set of chemical reactions that happen in the cells of living organisms to sustain life. These processes allow organisms to grow and reproduce, maintain their structures, and respond to their environments. Metabolism is usually divided into two categories...
      
      
      • Zellweger syndrome
        Zellweger syndrome
        Zellweger syndrome, also called cerebrohepatorenal syndrome is a rare, congenital disorder, characterized by the reduction or absence of functional peroxisomes in the cells of an individual. It is one of a family of disorders called leukodystrophies...
        
        
    • Disorders of mitochondrial metabolism
      • Kearns-Sayre syndrome
        Kearns-Sayre syndrome
        Kearns–Sayre syndrome also known as oculocraniosomatic disease or Oculocraniosomatic neuromuscular disease with ragged red fibers is a mitochondrial myopathy with a typical onset before 20 years of age...
        
        
      • Mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS syndrome)
      • Mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE)
      • Myoclonus with epilepsy and with ragged red fibers (MERRF syndrome
        MERRF syndrome
        MERRF syndrome is a mitochondrial disease. It is extremely rare, with an estimated prevalence of 1/400,000 in Europe, and has varying degrees of expressivity owing to heteroplasmy-Presentation:...
        
        )
      • Neuropathy, ataxia, and retinitis pigmentosa
        Neuropathy, ataxia, and retinitis pigmentosa
        Neuropathy, ataxia, and retinitis pigmentosa is a condition that causes a variety of signs and symptoms chiefly affecting the nervous system. Beginning in childhood or early adulthood, most people with NARP experience numbness, tingling, or pain in the arms and legs ; muscle weakness; and problems...
        
         (NARP syndrome)
    • Tumor lysis syndrome
      Tumor lysis syndrome
      In medicine , tumor lysis syndrome is a group of metabolic complications that can occur after treatment of cancer, usually lymphomas and leukemias, and sometimes even without treatment...
      
      
    • Other specified disorders of metabolism
      Metabolism
      Metabolism is the set of chemical reactions that happen in the cells of living organisms to sustain life. These processes allow organisms to grow and reproduce, maintain their structures, and respond to their environments. Metabolism is usually divided into two categories...
      
      

Obesity and other hyperalimentation

• Obesity
  Obesity
  Obesity is a medical condition in which excess body fat has accumulated to the extent that it may have an adverse effect on health, leading to reduced life expectancy and/or increased health problems...
  
   and other hyperalimentation
  Hyperalimentation
  Hyperalimentation refers to a state where quantities of food consumed are greater than appropriate. It includes overeating, as well as other routes of administration such as in parenteral nutrition....
  
  
  • Obesity, NOS
    Obesity
    Obesity is a medical condition in which excess body fat has accumulated to the extent that it may have an adverse effect on health, leading to reduced life expectancy and/or increased health problems...
    
    
  • Localized adiposity
  • Hypervitaminosis A
    Hypervitaminosis A
    Hypervitaminosis A refers to the effects of excessive vitamin A intake.-Presentation:Effects include* Birth defects* Liver problems* Reduced bone mineral density that may result in osteoporosis* Coarse bone growths...
    
    
  • Hypercarotinemia
  • Hypervitaminosis D
    Hypervitaminosis D
    Hypervitaminosis D is a state of vitamin D toxicity.The recommended daily allowance is 400 IU per day. Overdose has been observed at 1925 µg/d...
    
    

Disorders involving the immune mechanism

• Disorders involving the immune mechanism
  • Deficiency of humoral immunity
    Humoral immunity
    The Humoral Immune Response is the aspect of immunity that is mediated by secreted antibodies produced in the cells of the B lymphocyte lineage . B Cells transform into plasma cells which secrete antibodies...
    
    
    • Hypogammaglobulinemia
      Hypogammaglobulinemia
      Hypogammaglobulinemia is a type of immune disorder characterized by a reduction in all types of gamma globulins.Hypogammaglobulinemia is a characteristic of common variable immunodeficiency.-Terminology:...
      
       unspecified
    • Selective IgA immunodeficiency
    • Selective IgM immunodeficiency
    • Other selective immunoglobulin deficiencies
    • Congenital hypogammaglobulinemia
    • Immunodeficiency with increased IgM
    • Common variable immunodeficiency
      Common variable immunodeficiency
      Common variable immunodeficiency is a group of approximately 150 primary immunodeficiencies , which have a common set of symptoms but which have different underlying causes.Common variable immunodeficiency is the most commonly encountered primary immunodeficiency.-Causes and types:CVID...
      
      
    • Other deficiency of humoral immunity
  • Deficiency of cell-mediated immunity
    Cell-mediated immunity
    Cell-mediated immunity is an immune response that does not involve antibodies but rather involves the activation of macrophages, natural killer cells , antigen-specific cytotoxic T-lymphocytes, and the release of various cytokines in response to an antigen...
    
    
    • Immunodeficiency with predominant t-cell defect unspecified
    • DiGeorge syndrome
      DiGeorge syndrome
      22q11.2 deletion syndrome, which has several presentations including DiGeorge syndrome , DiGeorge anomaly, velo-cardio-facial syndrome, Shprintzen syndrome, conotruncal anomaly face syndrome, Strong syndrome, congenital thymic aplasia, and thymic hypoplasia is a syndrome caused by the deletion of a...
      
      
    • Wiskott-Aldrich syndrome
      Wiskott-Aldrich syndrome
      Wiskott–Aldrich syndrome is a rare X-linked recessive disease characterized by eczema, thrombocytopenia , immune deficiency, and bloody diarrhea . It is also sometimes called the eczema-thrombocytopenia-immunodeficiency syndrome in keeping with Aldrich's original description in 1954...
      
      
    • Nezelof's syndrome
    • Other deficiency of cell-mediated immunity
      Cell-mediated immunity
      Cell-mediated immunity is an immune response that does not involve antibodies but rather involves the activation of macrophages, natural killer cells , antigen-specific cytotoxic T-lymphocytes, and the release of various cytokines in response to an antigen...
      
      
  • Combined immunity deficiency
    • Severe combined immunodeficiency
      Severe combined immunodeficiency
      Severe combined immunodeficiency , is a genetic disorder in which both "arms" of the adaptive immune system are impaired due to a defect in one of several possible genes. SCID is a severe form of heritable immunodeficiency...
      
      
  • Unspecified immunity deficiency
  • Autoimmune disease
    Autoimmune disease
    Autoimmune diseases arise from an overactive immune response of the body against substances and tissues normally present in the body. In other words, the body actually attacks its own cells. The immune system mistakes some part of the body as a pathogen and attacks it. This may be restricted to...
    
     not elsewhere classified
  • Graft-versus-host disease
    Graft-versus-host disease
    Graft-versus-host disease is a common complication after a stem cell transplant or bone marrow transplant from another person . Immune cells in the donated marrow or stem cells recognize the recipient as "foreign". The transplanted immune cells then attack the host's body cells...
    
    
  • Other specified disorders involving the immune mechanism
  • Unspecified disorder of immune mechanism

See also

• List of ICD-9 codes
• ICD-10 Chapter E: Endocrine, nutritional and metabolic diseases