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Article

A novel compound heterozygous mutation of the L2HGDH gene in a Chinese boy with L-2-hydroxyglutaric aciduria: case report and literature review.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Oct 2018

Zhang Yuanfeng, Wang Chunmei, Yang Kunfang, Wang Simei, Tian Guoli, Chen Yucai

Abstract excerpt

OBJECTIVE: L-2-hydroxyglutaric aciduria is a genetic metabolic disorder. Its clinical features include elevated levels of hydroxyglutaric acid in body fluids and abnormal magnetic resonance imaging (MRI) in the subcortical white matter, which are affected by the accumulation of L-2-hydroxyglutaric acid. METHOD: A boy with psychomotor retardation and progressive ataxia accompanied by abnormal brain MRI findings...

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PMID: 29980873
DOI: 10.1007/s10072-018-3483-2

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