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Article

Loss of function variants in L2HGDH gene causing L-2-hydroxyglutaric aciduria.

Acta neurologica Belgica - 1 Dec 2023

Bellad Anikha, Holla Vikram V, Kumari Riyanka, Kamble Nitish, Yadav Ravi, Pandey Akhilesh, Pal Pramod Kumar, Muthusamy Babylakshmi

Abstract excerpt

BACKGROUND: L-2-Hydroxyglutaric aciduria (L2HGA) is a rare progressive neurometabolic disorder with variable clinical presentation including cerebellar ataxia, psychomotor retardation, seizures, macrocephaly and speech problems. In this study, we aimed at identifying the genetic cause in two unrelated families suspected with L2HGA. METHODS: Exome sequencing was performed on two patients from family 1 with...

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PMID: 37378753
DOI: 10.1007/s13760-023-02318-7

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