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Propionic acidemia

Disease definition

Propionic acidemia (PA) is an organic aciduria caused by the deficient activity of the propionyl Coenzyme A carboxylase and is characterized by life threatening episodes of metabolic decompensation, neurological dysfunction and that may be complicated by cardiomyopathy.

ORPHA:35

  • Synonym(s):
    • Ketotic hyperglycinemia
    • Propionic aciduria
    • Propionyl-CoA carboxylase deficiency
  • Prevalence: 1-9 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E71.1
  • OMIM: 606054
  • UMLS: C0268579  C0311298  C2717876
  • MeSH: D056693
  • GARD: 467
  • MedDRA: -

Additional information

Specialised Social Services

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