(IVA) Isovaleric Acidemia aka Isovaleryl CoA Dehydrogenase Deficiency

Isovaleric acidemia is a rare disorder in which the body is unable to process certain proteins properly. People with this disorder have inadequate levels of an enzyme that helps break down the amino acid leucine, a building block of proteins.

A characteristic feature of isovaleric acidemia is a distinctive odor of sweaty feet. This odor is caused by the buildup of a compound called isovaleric acid in affected individuals.

Informative Websites

IVA emergency protocol
Parent Fact Sheet on Isovaleric Acidemia by STAR-G/HRSA
L-Carnitine in Isovaleric (Article by Roe, Millington, Meltby, Kahler & Bohan
Isovaleric Acidemia – Guide for Parents – (PacNoRGG)
Isovaleric Acidemia – Guide for Parents – In Spanish (PacNoRGG)
Pub Med – Isovaleric Acidemia
IVA Resource for Leucine Monitoring (scroll down to MSUD booklet)
Clinical and neurocognitive outcome in symptomatic isovaleric acidemia

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IVA Research & Studies

A Common Mutation Is Associated with a Mild, Potentially Asymptomatic Phenotype in Patients with Isovaleric Acidemia Diagnosed by Newborn Screening by Regina Ensenauer, MD.
Isovaleric Acidemia: New Aspects of Genetic and Phenotypic Heterogeneity (American Journal of Medical Genetics) by Jerry Vockley, MD, and Regina Ensensauer, MD
Questionnaire Survey for the clinical outcome of the biochemically mild pheno-type of IVA diagnosed by NBS

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Meet Our Children With IVA

Stephen and Caroline

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