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Article

Genetic mutation profile of isovaleric acidemia patients in Taiwan.

Molecular genetics and metabolism - 1 Feb 2007

Lin Wei-De, Wang Chung-Hsing, Lee Cheng-Chung, Lai Chien-Chen, Tsai Yushin, Tsai Fuu-Jen

Abstract excerpt

Isovaleric acidemia (IVA), a rare recessive autosomal disorder, is caused by isovaleryl-CoA dehydrogenase (IVD) deficiency. IVA may present with symptoms during the acute stage of severe metabolic acidosis, ketosis, vomiting, and altered mental status. With the help of newborn screening (NBS) by tandem mass spectrometry (MS/MS), IVA can now be diagnosed presymptomatically. According to statistic data, the...

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Source

Identifiers

PMID: 17027310
DOI: 10.1016/j.ymgme.2006.08.011

Genes

IVD

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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