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Article

Osteoma of the calvaria in L-2-hydroxyglutaric aciduria.

Journal of inherited metabolic disease - 1 Nov 2007

Larnaout A, Amouri R, Neji S, Zouari M, Kaabachi N, Hentati F

Abstract excerpt

L-2-Hydroxyglutaric aciduria (L-2-OHGA) is a rare autosomal recessive neurometabolic disease linked to chromosome 14q21.1 and is caused by mutations in the gene that most likely encodes L: -2-hydroxyglutarate dehydrogenase, which normally catalyses L: -2-hydroxyglutarate to alpha-ketoglutarate. It is characterized by progressive mental deterioration, pyramidal and cerebellar syndromes, macrocephaly and marked...

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Identifiers

PMID: 17917788
DOI: 10.1007/s10545-007-0576-0

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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