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Article

[Clinical and mutational study of a Chinese infant with isovaleric acidemia].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 1 Jul 2008

Qiu Wen-juan, Gu Xue-fan, Ye Jun, Han Lian-shu, Bai Hai-tao, Wang Xia, Gao Xiao-lan, Wang Yu, Jin Jing, Zhang Hui-wen

Abstract excerpt

OBJECTIVES: 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. IVA is considered to be a severe, potentially life-threatening disorder that manifests with acute neonatal encephalopathy in approximately half of affected...

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Share to Amino Acid Metabolism, Inborn Errors
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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 19099814

Genes

IVD

Variants

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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[Clinical and mutational study of a Chinese infant with isovaleric acidemia].PMID 19099814Read ↗

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