Orphanet: Malonic aciduria

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Malonic aciduria

Disease definition

Malonic aciduria is a metabolic disorder caused by deficiency of malonyl-CoA decarboxylase (MCD).


Classification level: Disorder
  • Synonym(s):
    • Malonyl-CoA decarboxylase deficiency
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: E72.8
  • OMIM: 248360
  • UMLS: C0342793
  • MeSH: C535702
  • GARD: 3371
  • MedDRA: -
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