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Article

Phenotypic and mutation spectrums of Thai patients with isovaleric acidemia.

Pediatrics international : official journal of the Japan Pediatric Society - 1 Dec 2011

Vatanavicharn Nithiwat, Liammongkolkul Somporn, Sakamoto Osamu, Sathienkijkanchai Achara, Wasant Pornswan

Abstract excerpt

BACKGROUND: Isovaleric acidemia (IVA) is an autosomal recessive disorder caused by deficiency of isovaleryl-CoA dehydrogenase (IVD). Clinical features include vomiting, lethargy, metabolic acidosis, and "sweaty feet" odor. The pathognomonic metabolite, isovalerylglycine, is detected on urine organic acid analysis. Clinical diagnosis of IVA can be confirmed on mutation analysis of the IVD gene. METHODS: The cases...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22004070
DOI: 10.1111/j.1442-200X.2011.03488.x

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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