C148366Level 7
Methylmalonic Aciduria Due to Methylmalonyl-CoA Mutase Deficiency
**Semantic type:** Disease or Syndrome
**Definition:** An autosomal recessive form of methylmalonic aciduria caused by mutation(s) in the MUT gene, encoding methylmalonyl-CoA mutase, mitochondrial.
**Synonyms:** - Methylmalonic Aciduria, Mut Type
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