Novel GLDC Compound Heterozygous Variant Leading to Nonketotic Hyperglycinemia: Case Report and Literature Review

Nonketotic hyperglycinemia (NKH) is a lethal autosomal recessive disease resulting from alterations in glycine metabolism, commonly caused by mutations in glycine decarboxylase (GLDC). The symptoms of NKH usually manifest in the neonatal period, and can be categorized into severe NKH and attenuated...

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Detalles Bibliográficos
Autores principales: Cao, Yanyan, Meng, Lingzhi, Zhang, Yudong, Jiao, Jiancheng, Pu, Weicong, Ma, Li
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8432289/
https://www.ncbi.nlm.nih.gov/pubmed/34513771
http://dx.doi.org/10.3389/fped.2021.725930

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8432289/
https://www.ncbi.nlm.nih.gov/pubmed/34513771
http://dx.doi.org/10.3389/fped.2021.725930

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