Isovaleric acidemia is a rare, inherited condition in which the body cannot fully break down the protein building block leucine. This lets a specific acid build up, which can cause problems if not managed. Newborn screening detects it early, when treatment is most effective.
What causes isovaleric acidemia
The condition is caused by variants in the IVD gene, which provides instructions for an enzyme involved in processing leucine. It is an organic acid disorder, inherited in an autosomal recessive pattern, so a child inherits one variant from each parent.
How newborn screening detects it
Newborn screening uses tandem mass spectrometry on the heel-prick blood spot to detect an elevated marker (C5 acylcarnitine). An abnormal result prompts confirmatory blood and urine testing.
How isovaleric acidemia is managed
Management usually includes a leucine-restricted (protein-controlled) diet, supplements such as glycine and carnitine that help the body clear the acid, and a sick-day plan for times of illness. With early diagnosis and consistent care from a metabolic team, many children do well.
How genetic screening fits in
State newborn screening does an excellent job of catching isovaleric acidemia. Genetic screening looks at the same picture from the DNA level and, in a single test, can also assess the genes tied to more than 1,000 other clinically actionable childhood conditions, many of which are not on any state panel. Fore Genomics offers an at-home cheek-swab screen, sequenced in CLIA-certified and CAP-accredited labs, with results supported by board-certified genetic counselors. See what we screen for or start screening.
Frequently asked questions
Is isovaleric acidemia on newborn screening panels?
Yes. It is a core condition on the federal Recommended Uniform Screening Panel and is screened for across U.S. states.
Can children with isovaleric acidemia do well?
Yes. With early diagnosis, dietary management, supplements, and a sick-day plan guided by a metabolic team, many children grow and develop typically.
Is it inherited?
Yes. Isovaleric acidemia is autosomal recessive, so a child inherits an IVD variant from each parent.
Related guides
- Newborn Screening Guide (all conditions and states)
- Propionic Acidemia
- Maple Syrup Urine Disease (MSUD)
Medically reviewed by Fore's Clinical Team. This article is for general educational purposes and is not medical advice. Sources: HRSA Newborn Screening; National Organization for Rare Disorders (NORD).