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Article

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

Molecular genetics and metabolism - 1 Jan 2000

Lee Yong-Wha, Lee Dong Hwan, Vockley Jerry, Kim Nam-Doo, Lee You Kyoung, Ki Chang-Seok

Abstract excerpt

Isovaleric acidemia (IVA) is an autosomal recessive inborn error of the leucine metabolism that is caused by a deficiency of isovaleryl-CoA dehydrogenase (IVD). Recent application of tandem mass spectrometry to newborn screening has allowed a significant expansion of the recognition of individuals with IVD deficiency. Although many patients have been reported worldwide, there are no genetically confirmed patients...

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Identifiers

PMID: 17576084
DOI: 10.1016/j.ymgme.2007.05.003
PMCID: PMC4136440

Genes

IVD

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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