Search for a rare disease
Other search option(s)
Isovaleric acidemia
Disease definition
Isovaleric acidemia (IVA) is 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.
ORPHA:33
Detailed information
Article for general public
Professionals
- Summary information
- Greek (2014, pdf)
- Suomi (2014, pdf)
- Polski (2014, pdf)
- Emergency guidelines
- English (2012, pdf)
Additional information
Further information on this disease
Health care resources for this disease
Research activities on this disease
Specialised Social Services
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.