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Advances in nonketotic hyperglycinemia / 国际儿科学杂志
International Journal of Pediatrics ; (6): 452-455, 2023.
Artigo em Chinês | WPRIM | ID: wpr-989111
ABSTRACT
Nonketotic hyperglycinemia(NKH), also known as glycine encephalopathy, is a rare and life-threatening autosomal recessive disease.Due to the insufficient activity of the glycine cleavage enzyme system(GCS), glycine can not be degraded and accumulates in the body.It leads to progressive damage to the nervous system.The clinical manifestations of the disease vary.Based on ultimate outcome, NKH is categorized into severe NKH and attenuated NKH.It is characterized by increased glycine level in cerebrospinal, and further confirmatory tests are molecular genetic testing and enzymatic testing.So far, no causal treatment of NKH has been discovered and the overall prognosis is still poor.The therapy is based on sodium benzoate and N-methyl-D-aspartate(NMDA)receptor site antagonists.This article reviews the progress of NKH, in order to help clinicians comprehensively identify NKH and take proactive measures to get the best results.

Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Idioma: Chinês Revista: International Journal of Pediatrics Ano de publicação: 2023 Tipo de documento: Artigo

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Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Idioma: Chinês Revista: International Journal of Pediatrics Ano de publicação: 2023 Tipo de documento: Artigo