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Article

A novel homozygous missense mutation in L-2-HGA gene: A case report.

Clinical neurology and neurosurgery - 1 Feb 2023

Liu Yanjun, Wu Zhijun, Wang Wenjie, Han Hongmei, Wang Yongxiang, Wang Tiancheng

Abstract excerpt

L-2-hydroxyglutaric aciduria (L-2-HGA) is a rare autosomal recessive disease resulted from the mutated gene L-2- hydroxyglutarate dehydrogenase (L2HGDH). We presented a female case who inherited the disease from her consanguineous relatives and suffered from cognitive impairment, seizure, and ataxia. Using cerebral magnetic resonance imaging (MRI), urine organic acid test, and high-throughput DNA sequencing, a...

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PMID: 36610237
DOI: 10.1016/j.clineuro.2022.107529

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