METHYLMALONIC ACIDEMIA

'Methylmalonic acidemia' (MMA, also known as "methylmalonic aciduria") is an inborn error of intermediary metabolism that may present in the early neonatal period with progressive encephalopathy and death due to a secondary hyperammonemia.
Methylmalonic acidemia does not always result in death, if it is diagnosed at an early age.

Contents

Causes

Types

See also

References

Causes

Methylmalonic acidemia is an inherited disorder in which the body is unable to process certain proteins and fats (lipids) properly. Methylmalonic acidemia is a disorder of amino acid metabolism, involving a defect in the conversion of methylmalonyl-coenzyme A (CoA) to succinyl-CoA by methylmalonyl-CoA mutase.

Types

★ - cblA type

★ - cblB type

★ - cblC type

★ - cblD type

★ - cblF type

★ - cblH type

★ - mut type
Cobalmin (vitamin B12) is also needed for the conversion of methylmalonyl-CoA to Succinyl-CoA. Mutations leading to defects in cobalmin or in its transport frequently result in the development of acidemia. The numerous pat

See also

★ Isovaleric acidemia

★ Propionic acidemia

★ Methylmalonic acid

References

★ Organic Acidemia Association

★

★ Washington Health Center