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A novel protein truncating mutation in L2HGDH causes L-2-hydroxyglutaric aciduria in a consanguineous Pakistani family.

Metabolic brain disease - 1 Jan 2022

Muzammal Muhammad, Ali Muhammad Zeeshan, Brugger Beatrice, Blatterer Jasmin, Ahmad Safeer, Taj Sundas, Shah Syed Khizar, Khan Saadullah, Enzinger Christian, Petek Erwin, Wagner Klaus, Khan Muzammil Ahmad, Windpassinger Christian

Abstract excerpt

BACKGROUND: L-2-hydroxyglutaric aciduria (L2HGA) is a rare neurometabolic disorder that occurs due to accumulation of L-2-hydroxyglutaric acid in the cerebrospinal fluid (CSF), plasma and urine. The clinical manifestation of L2HGA includes intellectual disability, cerebellar ataxia, epilepsy, speech problems and macrocephaly. METHODS: In the present study, we ascertained a multigenerational consanguineous...

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PMID: 34719772
DOI: 10.1007/s11011-021-00832-2
PMCID: PMC8748340

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