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

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

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...

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Bibliographic Details
Main Authors: Wei Peng, Xiu-Wei Ma, Xiao Yang, Wan-Qiao Zhang, Lei Yan, Yong-Xia Wang, Xin Liu, Yan Wang, Zhi-Chun Feng
Format: Article
Language:English
Published: BMC 2018-09-01
Series:BMC Medical Genetics
Subjects:
L-2-Hydroxyglutaric aciduria
L2HGDH
Mutation
Online Access:http://link.springer.com/article/10.1186/s12881-018-0675-9

Internet

http://link.springer.com/article/10.1186/s12881-018-0675-9

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