https://scholars.lib.ntu.edu.tw/handle/123456789/525226
標題: | Neonatal type of nonketotic hyperglycinemia | 作者: | FRANK LEIGH LU Wang P.-J. WUH-LIANG HWU Tsou Yau K.-I. Wang T.-R. |
公開日期: | 1999 | 卷: | 20 | 期: | 4 | 起(迄)頁: | 295-300 | 來源出版物: | Pediatric Neurology | 摘要: | Two infants with the neonatal type of nonketotic hyperglycinemia that had manifested as early neonatal consciousness disturbance are presented. Transient hyperammonemia had been detected in both initially. High levels of glycine in plasma and cerebrospinal fluid disturb the nervous system, causing variable manifestations of this disease. Both cases were complicated by intracranial hemorrhage, which has never before been reported. After treatment with sodium benzoate and dextromethorphan, some neurologic improvement was observed, although the glycine levels did not lower. Recent clinical trials are reviewed, and because of the unfavorable outcomes, the special need for prenatal diagnosis is highlighted. |
URI: | https://www.scopus.com/inward/record.uri?eid=2-s2.0-0032939225&doi=10.1016%2fS0887-8994%2898%2900157-X&partnerID=40&md5=5e587dc7258382e9cf1f4876c7107e15 https://scholars.lib.ntu.edu.tw/handle/123456789/525226 |
ISSN: | 0887-8994 | DOI: | 10.1016/S0887-8994(98)00157-X | SDG/關鍵字: | benzoic acid; dextromethorphan; article; brain hemorrhage; case report; consciousness disorder; drug effect; female; human; hyperammonemia; hyperglycinemia; male; newborn; newborn disease; priority journal; Ammonia; Brain; Female; Glycine; Humans; Infant, Newborn; Lactic Acid; Magnetic Resonance Imaging; Male; Metabolism, Inborn Errors; Muscle Hypotonia; Psychomotor Disorders; Tomography, X-Ray Computed; Treatment Outcome |
顯示於: | 醫學系 |
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