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

• Main Authors: Yanyan Cao (Author), Lingzhi Meng (Author), Yudong Zhang (Author), Jiancheng Jiao (Author), Weicong Pu (Author), Li Ma (Author)
• Format: Book
• Published: Frontiers Media S.A., 2021-08-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...