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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Detalles Bibliográficos
Autores principales: Bin Arif, Taha, Ahmed, Jawad, Malik, Farheen, Nasir, Sharmeen, Khan, Taj M
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2020
Materias:
Endocrinology/Diabetes/Metabolism
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7145377/
https://www.ncbi.nlm.nih.gov/pubmed/32280576
http://dx.doi.org/10.7759/cureus.7235

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7145377/
https://www.ncbi.nlm.nih.gov/pubmed/32280576
http://dx.doi.org/10.7759/cureus.7235

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