https://scholars.lib.ntu.edu.tw/handle/123456789/524958
標題: | Poor outcome for neonatal-type nonketotic hyperglycinemia treated with high-dose sodium benzoate and dextromethorphan | 作者: | YIN-HSIU CHIEN Hsu C.-C. Huang A. Chou S.-P. FRANK LEIGH LU WANG-TSO LEE WUH-LIANG HWU |
公開日期: | 2004 | 出版社: | BC Decker Inc. | 卷: | 19 | 期: | 1 | 起(迄)頁: | 39-42 | 來源出版物: | Journal of Child Neurology | 摘要: | Neonatal-type nonketotic hyperglycinemia treatment remains unsatisfactory, even if started early. A review of six patients who underwent treatment for neonatal-type nonketotic hyperglycinemia in our hospital is presented. All patients were treated with a standardized protocol. Medical histories were retrieved from case notes. All six patients had elevated cerebrospinal fluid plasma glycine levels initially. All but one had received sodium benzoate and dextromethorphan from 1 month of age. All suffered from intractable seizures and severe mental retardation, and only two patients remain alive. One patient died at 5 days of age. No resuscitation was attempted in accordance with the family's wish after genetic counseling. The prognosis of neonatal nonketotic hyperglycinemia remains poor with current treatment. Genetic counseling helps parents cope with this devastating genetic disease. |
URI: | https://www.scopus.com/inward/record.uri?eid=2-s2.0-1542603300&doi=10.1177%2f08830738040190010702&partnerID=40&md5=38c3dc11d91336fdf4809f33aff0bd8e https://scholars.lib.ntu.edu.tw/handle/123456789/524958 |
ISSN: | 0883-0738 | DOI: | 10.1177/08830738040190010702 | SDG/關鍵字: | benzoic acid; dextromethorphan; glycine; ketamine; amino acid blood level; anamnesis; article; cerebrospinal fluid analysis; clinical article; clinical protocol; decision making; disease classification; disease severity; dose response; drug megadose; family counseling; gastrointestinal symptom; genetic counseling; human; hyperglycinemia; infant; intractable epilepsy; mental deficiency; mortality; priority journal; prognosis; resuscitation; sedation; side effect; standardization; treatment outcome |
顯示於: | 醫學系 |
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