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Article

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

The Tohoku journal of experimental medicine - 1 Jun 2015

Sakamoto Osamu, Arai-Ichinoi Natsuko, Mitsubuchi Hiroshi, Chinen Yasutsugu, Haruna Hidenori, Maruyama Hidehiko, Sugawara Hidenori, Kure Shigeo

Abstract excerpt

Isovaleric acidemia (IVA) is an autosomal recessive inborn error affecting leucine metabolism. It is caused by a deficiency in isovaleryl-CoA dehydrogenase (IVD), a mitochondrial matrix enzyme that catalyzes the oxidation of isovaleryl-CoA to 3-methylcrotonyl-CoA. IVD is a FAD-containing enzyme, consisting of four identical subunits. Clinical features of IVA include poor feeding, vomiting, lethargy, developmental...

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Identifiers

PMID: 26018748
DOI: 10.1620/tjem.236.103

Genes

IVD

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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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