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Article

Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegeneration.

American journal of human genetics - 1 Jan 2007

Loupatty Ference J, Clayton Peter T, Ruiter Jos P N, Ofman Rob, Ijlst Lodewijk, Brown Garry K, Thorburn David R, Harris Robert A, Duran Marinus, Desousa Carlos, Krywawych Steve, Heales Simon J R, Wanders Ronald J A

Abstract excerpt

Only a single patient with 3-hydroxyisobutyryl-CoA hydrolase deficiency has been described in the literature, and the molecular basis of this inborn error of valine catabolism has remained unknown until now. Here, we present a second patient with 3-hydroxyisobutyryl-CoA hydrolase deficiency, who...

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Identifiers

PMID: 17160907
DOI: 10.1086/510725
PMCID: PMC1785315

Genes

HIBCH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17160907-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegeneration.PMID 17160907Read ↗

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HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase.Semantic proximity Read ↗

Identification of HIBCH gene mutations causing autosomal recessive Leigh syndrome: a gene involved in valine metabolism.Semantic proximity Read ↗

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