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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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| 出版年: | Cureus |
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| 主要な著者: | , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Cureus
2020
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| 主題: | |
| オンライン･アクセス: | 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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