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Methylmalonic acidemia

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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.

CausesEdit

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.

TypesEdit

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 alsoEdit

References Edit

fr:Acidémie méthylmalonique


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