Two novel L2HGDH mutations identified in a rare Chinese family with L-2-hydroxyglutaric aciduria

• Main Authors: Wei Peng (Author), Xiu-Wei Ma (Author), Xiao Yang (Author), Wan-Qiao Zhang (Author), Lei Yan (Author), Yong-Xia Wang (Author), Xin Liu (Author), Yan Wang (Author), Zhi-Chun Feng (Author)
• Format: Book
• Published: BMC, 2018-09-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background L-2-Hydroxyglutaric aciduria (L-2-HGA) is a rare organic aciduria neurometabolic disease that is inherited as an autosomal recessive mode and have a variety of symptoms, such as psychomotor developmental retardation, epilepsy, cerebral symptoms as well as increased concentrations...