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Isovaleric acidemia

Orpha number ORPHA33
Synonym(s) Isovaleric acid CoA dehydrogenase deficiency
Prevalence 1-9 / 100 000
Inheritance
  • Autosomal recessive
Age of onset Neonatal/infancy
ICD-10
  • E71.1
OMIM
UMLS
  • C0268575
MeSH
  • C538167
MedDRA -
SNOMED CT
  • 87827003

Summary

Isovaleric acidemia (IVA) is a 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 foods or infections, and that can be fatal if not treated immediately. Chronic intermittent presentations and asymptomatic patients are also reported.


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Detailed information

Summary information
Emergency guidelines
  • EN (2012,pdf)
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