Methylmalonyl-CoA mutase deficiency
Encyclopedia
Methylmalonyl-CoA mutase deficiency ("MUT") is an inborn error of organic acid metabolism. It is one of the 29 conditions currently recommended for newborn screening
by the American College of Medical Genetics
.
Symptoms include: failure to thrive, vomiting, dehydration, developmental delay, and seizures.
An accumulation of propionyl CoA, a substrate for a TCA cycle enzyme, and of citrate synthase, leading to an accumulation of methyl citrate (a TCA toxin) accompanies the lack of methylmalonyl CoA mutase.
It is a form of Methylmalonic acidemia
.
Newborn screening
Newborn screening is the process by which infants are screened shortly after birth for a list of disorders that are treatable, but difficult or impossible to detect clinically. Screening programs are often run by state or national governing bodies with the goal of screening all infants born in the...
by the American College of Medical Genetics
American College of Medical Genetics
The American College of Medical Genetics is an organization composed of biochemical, clinical, cytogenetic, medical and molecular geneticists, genetic counselors and other health care professionals committed to the practice of medical genetics....
.
Symptoms include: failure to thrive, vomiting, dehydration, developmental delay, and seizures.
An accumulation of propionyl CoA, a substrate for a TCA cycle enzyme, and of citrate synthase, leading to an accumulation of methyl citrate (a TCA toxin) accompanies the lack of methylmalonyl CoA mutase.
It is a form of Methylmalonic acidemia
Methylmalonic acidemia
Methylmalonic acidemia , also called methylmalonic aciduria, is an autosomal recessive metabolic disorder. It is a classical type of organic acidemia....
.