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Article

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

Pediatric neurology - 1 Mar 2015

Soler-Alfonso Claudia, Enns Gregory M, Koenig Mary Kay, Saavedra Heather, Bonfante-Mejia Eliana, Northrup Hope

Abstract excerpt

BACKGROUND: Leigh syndrome is a progressive neurodegenerative disorder with usual onset of symptoms during the first year of life. The disorder has been associated with mutations in over 30 genes. This difficulty with genetic heterogeneity makes whole exome sequencing a more cost-effective approach for investigation of etiology. PATIENT AND RESULTS: We describe an individual with typical Leigh syndrome who was...

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Source

Identifiers

PMID: 25591832
DOI: 10.1016/j.pediatrneurol.2014.10.023

Genes

HIBCH

Provenance

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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Identification of HIBCH gene mutations causing autosomal recessive Leigh syndrome: a gene involved in valine metabolism.PMID 25591832Read ↗

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Truncating mutations of HIBCH tend to cause severe phenotypes in cases with HIBCH deficiency: a case report and brief literature review.Semantic proximity Read ↗

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