Novel GLDC variants causing nonketotic hyperglycinemia in Chinese patients

Novel GLDC variants causing nonketotic hyperglycinemia in Chinese patients

Glycine decarboxylase gene (GLDC) mutations cause nonketotic hyperglycinemia (NKH). Patients of NKH usually have heterogeneous phenotypes including respiratory failure, lethargy, myoclonic jerks, and hypotonia. The excessive glycine accumulation in brain is a crucial pathogenic mechanism.

Bibliographic Details
Main Authors: Zhao Xiangyue, Zhang Guoqing, Dong Shumei, Yao Ru-En, Li Niu, Yu Tingting, Bei Fei, Wang Jian
Format: Article
Language:English
Published: De Gruyter 2022-10-01
Series:Journal of Laboratory Medicine
Subjects:
gldc
gldc mutations
glycine accumulation
glycine cleavage enzyme system
nonketotic hyperglycinemia
splice-site variations
Online Access:https://doi.org/10.1515/labmed-2022-0089
Description
Summary:Glycine decarboxylase gene (GLDC) mutations cause nonketotic hyperglycinemia (NKH). Patients of NKH usually have heterogeneous phenotypes including respiratory failure, lethargy, myoclonic jerks, and hypotonia. The excessive glycine accumulation in brain is a crucial pathogenic mechanism.
ISSN:2567-9430
2567-9449

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