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Article

Identification of novel L2HGDH mutation in a large consanguineous Pakistani family- a case report.

BMC medical genetics - 20 Feb 2018

Ullah Muhammad Ikram, Nasir Abdul, Ahmad Arsalan, Harlalka Gaurav Vijay, Ahmad Wasim, Hassan Muhammad Jawad, Baple Emma L, Crosby Andrew H, Chioza Barry A

Abstract excerpt

BACKGROUND: L-2-hydroxyglutaric aciduria (L2HGA) is a progressive neurometabolic disease of brain caused by mutations of in L-2-hydroxyglutarate dehydrogenase (L2HGDH) gene. Cardinal clinical features include cerebellar ataxia, epilepsy, neurodevelopmental delay, intellectual disability, and other clinical neurological deficits. CASE PRESENTATION: We describe an index case of the family presented with generalised...

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PMID: 29458334
DOI: 10.1186/s12881-018-0532-x
PMCID: PMC5819255

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