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Article

Isovaleric acidemia: new aspects of genetic and phenotypic heterogeneity.

American journal of medical genetics. Part C, Seminars in medical genetics - 15 May 2006

Vockley Jerry, Ensenauer Regina

Abstract excerpt

Isovaleric acidemia (IVA) is an autosomal recessive inborn error of leucine metabolism caused by a deficiency of the mitochondrial enzyme isovaleryl-CoA dehydrogenase (IVD) resulting in the accumulation of derivatives of isovaleryl-CoA. It was the first organic acidemia recognized in humans and can cause significant morbidity and mortality. Early diagnosis and treatment with a protein restricted diet and...

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Source

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Identifiers

PMID: 16602101
DOI: 10.1002/ajmg.c.30089
PMCID: PMC2652706

Genes

IVD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Isovaleric acidemia: new aspects of genetic and phenotypic heterogeneity.PMID 16602101Read ↗

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Phenotypic Variability and Newly Identified Mutations of the IVD Gene in Japanese Patients with Isovaleric Acidemia.Semantic proximity Read ↗

Different spectrum of mutations of isovaleryl-CoA dehydrogenase (IVD) gene in Korean patients with isovaleric acidemia.Semantic proximity Read ↗

A Case Report of a Novel Isovaleryl-CoA Dehydrogenase Gene Mutation in a Chinese Family with Isovaleric Acidemia.Semantic proximity Read ↗

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