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Methylmalonic acid.svg|
Methylmalonic acidemia
ICD-10 E711
ICD-9 270.3
OMIM [1]
DiseasesDB 29509 29510
MedlinePlus 001162
eMedicine neuro/576
MeSH {{{MeshNumber}}}

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.

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[]

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[]

fr:Acidémie méthylmalonique


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