https://scholars.lib.ntu.edu.tw/handle/123456789/537151
標題: | Metabolic disorders mimicking Reye's syndrome | 作者: | Chang P.-F. Huang S.-F. WUH-LIANG HWU Hou J.-W. YEN-HSUAN NI MEI-HWEI CHANG |
公開日期: | 2000 | 卷: | 99 | 期: | 4 | 起(迄)頁: | 295-299 | 來源出版物: | Journal of the Formosan Medical Association | 摘要: | Background: Several metabolic disorders such as encephalopathy and hepatic dysfunction have been described as Reye's-like syndrome because they present with similar clinical manifestations that mimic Reye's syndrome. We performed a retrospective study to explore the underlying metabolic etiologies of Reye's-like syndrome in patients treated at National Taiwan University Hospital. Methods: From January 1991 to June 1998, 19 children with a syndrome fitting the Reye's-like syndrome description were identified for study. Urine organic acid analysis, plasma amino acid analysis, liver pathology, and skin fibroblast enzyme assays were studied during the acute stage of illness. Results: The etiologies of patients' syndromes included urea cycle disorders (n = 7), glycogen storage disease type Ia (4), primary carnitine deficiency (2), hereditary fructose intolerance (1), methylmalonic acidemia (2), and 3-hydroxy-3-methylglutaric acidemia (1). Fatty acid oxidation defects were suspected in the remaining two cases. Conclusions: A significant number of patients who present with Reye's-like syndrome have an underlying inherited metabolic disorder. In patients with Reye's-like syndrome, an accurate diagnosis is essential to ensure normal growth and development and to prevent recurrence of the condition. |
URI: | https://www.scopus.com/inward/record.uri?eid=2-s2.0-0033890787&partnerID=40&md5=73e86dd4b8ab83895061a415a4532fcd https://scholars.lib.ntu.edu.tw/handle/123456789/537151 |
ISSN: | 0929-6646 | SDG/關鍵字: | 3 hydroxy 3 methylglutaric acid; carnitine; fatty acid; fructose; methylmalonic acid; urea; article; carnitine deficiency; child; clinical article; clinical feature; female; glycogen storage disease type 1; hereditary fructose intolerance; human; infant; male; metabolic disorder; methylmalonic acidemia; neuropathology; newborn; pathogenesis; preschool child; Reye syndrome; Taiwan; urea cycle; Child, Preschool; Female; Humans; Infant; Infant, Newborn; Liver; Male; Retrospective Studies; Reye Syndrome; Urea |
顯示於: | 醫學系 |
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