Orphanet: Methylmalonic acidemia without homocystinuria

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Methylmalonic acidemia without homocystinuria

Disease definition

Methylmalonic acidemia is an inborn error of vitamin B12 metabolism characterized by gastrointestinal and neurometabolic manifestations resulting from decreased function of the mitochondrial enzyme methylmalonyl-CoA mutase.


Classification level: Group of disorders
  • Synonym(s):
    • Methylmalonic aciduria without homocystinuria
  • Prevalence: 1-9 / 100 000
  • Inheritance: Autosomal dominant or Autosomal recessive or X-linked dominant 
  • Age of onset: All ages
  • ICD-10: E71.1
  • OMIM: -
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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