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Neonatal Nonketotic Hyperglycinemia: A Rare Case from Pakistan

Nonketotic hyperglycinemia (NKH) is an autosomal recessive disorder caused by a defect in glycine cleavage enzyme. It leads to the accumulation of glycine in the body tissues, blood, and cerebrospinal fluid (CSF). Most NKH cases are diagnosed during the natal period of life and are fatal if not prom...

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Detalhes bibliográficos
Publicado no:Cureus
Main Authors: Bin Arif, Taha, Ahmed, Jawad, Malik, Farheen, Nasir, Sharmeen, Khan, Taj M
Formato: Artigo
Idioma:Inglês
Publicado em: Cureus 2020
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7145377/
https://ncbi.nlm.nih.gov/pubmed/32280576
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7759/cureus.7235
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