文章基本信息

标题：A surviving 24-month-old patient with neonatal-onset carnitine palmitoyltransferase II deficiency
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作者：Naohiro Ikeda ; Shinsuke Maruyama ; Kanna Nakano 等
期刊名称：Molecular Genetics and Metabolism Reports
印刷版ISSN：2214-4269
出版年度：2017
卷号：11
页码：69-71
DOI：10.1016/j.ymgmr.2017.04.010
出版社：Elsevier B.V.
摘要：
The early-onset form of carnitine palmitoyltransferase (CPT) II deficiency has severe outcomes; patients typically die during the newborn period. We report a case of neonatal-onset CPT II deficiency with prolonged survival, exceeding 24 months. The patient was successfully treated by continuous hemodialysis (CHD), which enabled her to overcome repeated crises. We suggest that early intensive treatment, including CHD, is a key for prolonged survival in patients with neonatal-onset CPT II deficiency.
关键词：CPT II deficiency ; Hyperammonemia ; Continuous hemodialysis ; Prolonged survival ; Neonatal-onset