Poor outcome for neonatal-type nonketotic hyperglycinemia treated with high-dose sodium benzoate and dextromethorphan.
作者： Yin-Hsiu Chien , Chia-Chi Hsu , Aichu Huang , Shi-Ping Chou , Frank-Li Lu
DOI: 10.1177/08830738040190010702
关键词:
摘要: Neonatal-type nonketotic hyperglycinemia treatment remains unsatisfactory, even if started early. A review of six patients who underwent for neonatal-type in our hospital is presented. All were treated with a standardized protocol. Medical histories retrieved from case notes. had elevated cerebrospinal fluid plasma glycine levels initially. but one received sodium benzoate and dextromethorphan 1 month age. suffered intractable seizures severe mental retardation, only two remain alive. One patient died at 5 days No resuscitation was attempted accordance the family's wish after genetic counseling. The prognosis neonatal poor current treatment. Genetic counseling helps parents cope this devastating disease. (J Child Neurol 2004;19:39—42).
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