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Article

Clinical, neuroimaging, and genetic features of L-2-hydroxyglutaric aciduria in Arab kindreds.

Annals of Saudi medicine - 1 Jan 2000

Faiyaz-Ul-Haque Muhammad, Al-Sayed Moeenaldeen D, Faqeih Eissa, Jamil Masood, Saeed Anjum, Amoudi Mohamed Saleh, Kaya Namik, Abalkhail Halah, Al-Abdullatif Ahmed, Rashed Mohamed, Al-Owain Mohammed, Peltekova Iskra, Zaidi Syed H E

Abstract excerpt

BACKGROUND AND OBJECTIVES: L-2-hydroxyglutaric aciduria is a neurometabolic disorder with autosomal recessive mode of inheritance in which patients exhibit elevated L-2-hydroxyglutaric acid in body fluids, central nervous system manifestations, and increased risk of brain tumor formation. Mutations in L2HGDH gene have been described in L-2-hydroxyglutaric aciduria patients of different ethnicities. The present...

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Identifiers

PMID: 24894778
DOI: 10.5144/0256-4947.2014.107
PMCID: PMC6074860

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Source receipt: pubmed, retrieved 7 Sept 2026.

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