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

• Main Authors: Muhammad Ikram Ullah (Author), Abdul Nasir (Author), Arsalan Ahmad (Author), Gaurav Vijay Harlalka (Author), Wasim Ahmad (Author), Muhammad Jawad Hassan (Author), Emma L. Baple (Author), Andrew H. Crosby (Author), Barry A. Chioza (Author)
• Format: Book
• Published: BMC, 2018-02-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract 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...