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Isovaleric acidemia

Disease definition

A rare, autosomal recessive, organic aciduria that is characterized by variable clinical presentation ranging from acute neonatal onset of metabolic decompensation to later onset of chronic, non-specific manifestations including failure to thrive and/or developmental delay. All patients are prone to intermittent, acute metabolic decompensation. During metabolic episodes, urine analysis demonstrates elevated isovaleric acid derivatives.


Classification level: Disorder
  • Synonym(s):
    • Isovaleric acid CoA dehydrogenase deficiency
  • Prevalence: 1-9 / 100 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Adolescent, Adult, Infancy, Childhood, Neonatal
  • ICD-10: E71.1
  • ICD-11: 5C50.E0
  • OMIM: 243500
  • UMLS: C0268575
  • MeSH: C538167
  • GARD: 465
  • MedDRA: -

Detailed information

General public


ERN : produced/endorsed by ERN(s)
FSMR : produced/endorsed by FSMR(s)
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.