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Article

Molecular characterization of four different classes of mutations in the isovaleryl-CoA dehydrogenase gene responsible for isovaleric acidemia.

American journal of human genetics - 1 Jul 1991

Vockley J, Parimoo B, Tanaka K

Abstract excerpt

Isovaleric acidemia (IVA) is an inborn error of leucine metabolism and is caused by a genetically determined deficiency of isovaleryl-CoA dehydrogenase (IVD), a mitochondrial matrix enzyme. IVD is produced as a 45-kDa precursor and then is transported into the mitochondria, where it is processed to its mature 43-kDa size. Previous [35S]methionine-labeling studies of fibroblasts from IVA patients have revealed at...

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Identifiers

PMID: 2063866
PMCID: PMC1683224

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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Molecular characterization of four different classes of mutations in the isovaleryl-CoA dehydrogenase gene responsible for isovaleric acidemia.PMID 2063866Read ↗

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Mitochondrial import and processing of wild type and type III mutant isovaleryl-CoA dehydrogenase.Semantic proximity Read ↗

Isovaleric acidemia: new aspects of genetic and phenotypic heterogeneity.Semantic proximity Read ↗

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

Phenotypic and genotypic spectrum of Turkish patients with isovaleric acidemia.Semantic proximity Read ↗

Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemia.Semantic proximity Read ↗

A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening.Semantic proximity Read ↗

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

Characterization of variants of uncertain significance in isovaleryl-CoA dehydrogenase identified through newborn screening: An approach for faster analysis.Semantic proximity Read ↗

Structural organization of the human isovaleryl-CoA dehydrogenase gene.Semantic proximity Read ↗

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