Orphanet: Isovaleric acidemia

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Isovaleric acidemia

Disease definition

An autosomal recessively inherited organic aciduria characterized by a deficiency in isovaleryl-CoA dehydrogenase, that has wide clinical variability and that can present in infancy with acute manifestations of vomiting, failure to thrive, seizures, lethargy, a characteristic ''sweaty feet'' odor, acute pancreatitis and mild to severe developmental delay or in childhood with metabolic acidosis (brought on by prolonged fasting, an increased intake of protein-rich food or infections) and that can be fatal if not treated immediately. Chronic intermittent presentations and asymptomatic patients have also been reported.


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