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Article

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

Orphanet journal of rare diseases - 4 Dec 2013

Ferdinandusse Sacha, Waterham Hans R, Heales Simon J R, Brown Garry K, Hargreaves Iain P, Taanman Jan-Willem, Gunny Roxana, Abulhoul Lara, Wanders Ronald J A, Clayton Peter T, Leonard James V, Rahman Shamima

Abstract excerpt

BACKGROUND: Deficiency of 3-hydroxy-isobutyryl-CoA hydrolase (HIBCH) caused by HIBCH mutations is a rare cerebral organic aciduria caused by disturbance of valine catabolism. Multiple mitochondrial respiratory chain (RC) enzyme deficiencies can arise from a number of mechanisms, including defective maintenance or expression of mitochondrial DNA. Impaired biosynthesis of iron-sulphur clusters and lipoic acid can...

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Identifiers

PMID: 24299452
DOI: 10.1186/1750-1172-8-188
PMCID: PMC4222069

Genes

HIBCH

Variants

Provenance

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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HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase.PMID 24299452Read ↗

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