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Article

ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism.

Brain : a journal of neurology - 1 Nov 2014

Peters Heidi, Buck Nicole, Wanders Ronald, Ruiter Jos, Waterham Hans, Koster Janet, Yaplito-Lee Joy, Ferdinandusse Sacha, Pitt James

Abstract excerpt

Two siblings with fatal Leigh disease had increased excretion of S-(2-carboxypropyl)cysteine and several other metabolites that are features of 3-hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency, a rare defect in the valine catabolic pathway associated with Leigh-like disease. However, this diagnosis was excluded by HIBCH sequencing and normal enzyme activity. In contrast to HIBCH deficiency, the excretion of...

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Source

Identifiers

PMID: 25125611
DOI: 10.1093/brain/awu216

Genes

ECHS1
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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ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism.PMID 25125611Read ↗

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Novel ECHS1 mutations in Leigh syndrome identified by whole-exome sequencing in five Chinese families: case report.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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