(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.
In about half of cases, the signs and symptoms of this disorder become apparent within a few days after birth and include poor feeding, vomiting, seizures, and lack of energy (lethargy) that can progress to coma. These medical problems are typically severe and can be life-threatening. In the other half of cases, the signs and symptoms of the disorder appear during childhood and may come and go over time. They are often triggered by an infection or by eating an increased amount of protein-rich foods. more >>
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.
In about half of cases, the signs and symptoms of this disorder become apparent within a few days after birth and include poor feeding, vomiting, seizures, and lack of energy (lethargy) that can progress to coma. These medical problems are typically severe and can be life-threatening. In the other half of cases, the signs and symptoms of the disorder appear during childhood and may come and go over time. They are often triggered by an infection or by eating an increased amount of protein-rich foods. more >>
Isovaleric Acidemia Research Information
- 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
Articles on Isovaleric Acidemia
- 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)
- Treatment for Isovaleric Acidemia By: Jerry Vockley, MD, Ph.D. & Regina Ensenauer, MD
- Pub Med - Isovaleric Acidemia
- IVA Resource for Leucine Monitoring (scroll down to MSUD booklet)
- Clinical and neurocognitive outcome in symptomatic isovaleric acidemia
Informative and Family Websites
Meet Our Children With IVA
