3-hydroxy-3-methylglutaryl-CoA lyase
Encyclopedia
3-hydroxy-3-methylglutaryl-CoA lyase (or HMG-CoA
lyase) plays an essential role in breaking down dietary proteins and fats
for energy.
Specifically, the enzyme is required for ketogenesis
in the liver, and is also responsible for processing the amino acid
leucine
.
s in the HMGCL gene
cause 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
.
HMG-CoA
HMG-CoA is an intermediate in the Mevalonate pathway. It is formed from acetyl CoA and acetoacetyl CoA by HMG-CoA synthase.HMG-CoA reductase converts it into mevalonic acid....
lyase) plays an essential role in breaking down dietary proteins and fats
Lipid
Lipids constitute a broad group of naturally occurring molecules that include fats, waxes, sterols, fat-soluble vitamins , monoglycerides, diglycerides, triglycerides, phospholipids, and others...
for energy.
Specifically, the enzyme is required for ketogenesis
Ketogenesis
Ketogenesis is the process by which ketone bodies are produced as a result of fatty acid breakdown.-Production:Ketone bodies are produced mainly in the mitochondria of liver cells. Its synthesis occurs in response to low glucose levels in the blood, and after exhaustion of cellular carbohydrate...
in the liver, and is also responsible for processing the amino acid
Amino acid
Amino acids are molecules containing an amine group, a carboxylic acid group and a side-chain that varies between different amino acids. The key elements of an amino acid are carbon, hydrogen, oxygen, and nitrogen...
leucine
Leucine
Leucine is a branched-chain α-amino acid with the chemical formula HO2CCHCH2CH2. Leucine is classified as a hydrophobic amino acid due to its aliphatic isobutyl side chain. It is encoded by six codons and is a major component of the subunits in ferritin, astacin and other 'buffer' proteins...
.
Pathology
MutationMutation
In molecular biology and genetics, mutations are changes in a genomic sequence: the DNA sequence of a cell's genome or the DNA or RNA sequence of a virus. They can be defined as sudden and spontaneous changes in the cell. Mutations are caused by radiation, viruses, transposons and mutagenic...
s in the HMGCL gene
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...
cause 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
3-hydroxy-3-methylglutaryl-CoA lyase deficiency
3-hydroxy-3-methylglutaryl-CoA lyase deficiency also referred to as HMG-CoA lyase deficiency or Hydroxymethylglutaric aciduria, is an uncommon inherited disorder in which the body cannot properly process the amino acid leucine...
.