https://scholars.lib.ntu.edu.tw/handle/123456789/526085
標題: | 3-hydroxy-3-methylglutaric aciduria presenting with Reye like syndrome: Report of one case | 作者: | Lee C. Tsai F.-J. Wu J.-Y. Peng C.-T. Tsai C.-H. WUH-LIANG HWU Wang T.-R. Millington D.S. |
關鍵字: | 3-hydroxy-3-methylglutaric aciduria; Reye like syndrome | 公開日期: | 1999 | 卷: | 40 | 期: | 6 | 起(迄)頁: | 445-447 | 來源出版物: | Acta Paediatrica Taiwanica | 摘要: | We report the case of a patient with 3-hydroxy-3-methylglutaric aciduria who presented with a repeat attack of Reye like syndrome clinically. Vomiting and somnolence, generalized tonic and clonic convulsions with hepatomegaly, hyperammonemia, liver function impairment, and mild metabolic acidosis were the presenting signs. 3-hydroxyisovaleric, 3-methylglutaric, 3- methylglutaconic and 3-hydroxy-3-methylglutaric acids were detected in the urine by gas chromatography-mass spectrometry. 3-methylglutarylcarnitine was also identified in the urine by fast atom bombardment and tandem mass spectrometry. Therefore, the possibility of metabolic disease should be considered in neonates and infants with repeat attacks of Reye like syndrome and a history of similarly affected siblings. |
URI: | https://www.scopus.com/inward/record.uri?eid=2-s2.0-0033491729&partnerID=40&md5=a4db17d0224e7942d6e9bf232f29b5f9 https://scholars.lib.ntu.edu.tw/handle/123456789/526085 |
ISSN: | 0001-6578 | SDG/關鍵字: | 3 hydroxy 3 methylglutaric acid; hydroxymethylglutaryl coenzyme A synthase; aciduria; article; clinical examination; enzyme deficiency; human; pathophysiology; Reye syndrome; syndrome delineation; Female; Gas Chromatography-Mass Spectrometry; Humans; Infant; Meglutol; Recurrence; Reye Syndrome |
顯示於: | 醫學系 |
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