The precise molecular diagnosis of novel GLDC compound heterozygous variants highlights the benefits for a Chinese family with nonketotic hyperglycinemia

The precise molecular diagnosis of novel GLDC compound heterozygous variants highlights the benefits for a Chinese family with nonketotic hyperglycinemia

Glycine encephalopathy, also known as nonketotic hyperglycinemia (NHK), is a rare inherited disease caused by an inborn error of glycine metabolism, resulting in elevated glycine concentration in plasma and cerebrospinal fluid. Clinical manifestations mainly include varying degrees of hypotonia, apn...

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Main Authors: Fang Yuan, Xiaozhen Song, Rongrong Yin, Xiaoping Lan, Jingjing Sun, Xiaojun Tang, Wuhen Xu, Shaohua Hu, Man Xiao, Hong Zhang, Wenhao Weng, Yuanfeng Zhang, Shengnan Wu
Format: Article
Language:English
Published: Elsevier 2025-06-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
GLDC
Glycine cleavage enzyme system
Nonketotic hyperglycinemia
Seizure
Synonymous mutation
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426925000242
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