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題 名 | 3-Hydroxy-3-Methylglutaric Aciduria Presenting with Reye Like Syndrome: Report of One Case=以雷氏症候群表現之3-Hydroxy-3-Methylglutaric酸尿症:一病例報告 |
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作 者 | 李昭儀; 蔡輔仁; 鄔哲源; 彭慶添; 蔡長海; 胡務亮; 王作仁; | 書刊名 | 臺灣兒科醫學會雜誌 |
卷 期 | 40:6 民88.11-12 |
頁 次 | 頁445-447+469 |
分類號 | 415.593 |
關鍵詞 | 類雷氏症候群; 3-hydroxy-3-methylglutaric aciduria; Reye like syndrome; |
語 文 | 英文(English) |
中文摘要 | 3-Hydroxy-3-Methylglutaric Aciduria為--罕見之有機酸代謝異常疾病,臨床 及實驗數據類似雷氏症候群,本病例為一歲四個月的女孩,入院時症狀似嘔吐,嗜睡,抽痙 ,合併有肝臟腫大,高氨血症,及肝功能異常,血液氣體分析呈現代謝性酸血症,經由 Gas chromatography/mass spectrometry 以及 Fast atombombardment/mass spectrometry 的 檢查,我們診斷為 3-hydroxy-3-methylglutaric aciduria,且該病例有明顯之家族史,以 及重覆發作的特性,藉此呼籲大家對此類疾病之重視並與雷氏症候群作鑑別診斷。 |
英文摘要 | 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-methylgliitaric, 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 byfast 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. |
本系統中英文摘要資訊取自各篇刊載內容。