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L-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1.

Human molecular genetics - 15 Nov 2004

Topçu Meral, Jobard Florence, Halliez Sophie, Coskun Turgay, Yalçinkayal Cengiz, Gerceker Filiz Ozbas, Wanders Ronald J A, Prud'homme Jean-François, Lathrop Mark, Ozguc Meral, Fischer Judith

Abstract excerpt

l-2-Hydroxyglutaric aciduria (l-2-HGA) is characterized by progressive deterioration of central nervous system function including epilepsy and macrocephaly in 50% of cases, and elevated levels of l-2-hydroxyglutaric acid in urine, blood and cerebrospinal fluid (CSF). Nuclear magnetic resonance imaging shows distinct abnormalities. We report the identification of a gene for l-2-HGA aciduria (MIM 236792) using...

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PMID: 15385440
DOI: 10.1093/hmg/ddh300

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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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