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- 楓糖尿症
頁籤選單縮合
| 題 名 | Intermittent Form of Maple Syrup Urine Disease: Report of One Case=間歇型楓糖尿症: 一病例報告 |
|---|---|
| 作 者 | 黎璧賢; 馬瑞杉; 遲景上; 麥淑珍; | 書刊名 | 中華民國小兒科醫學會雜誌 |
| 卷 期 | 38:6 民86.11-12 |
| 頁 次 | 頁468-471+501 |
| 分類號 | 417.5937 |
| 關鍵詞 | 楓糖尿症; 間歇型; 支鏈胺基酸; Maple syrup urine disease; Intermittent form; Branched-chain amino acid; |
| 語 文 | 英文(English) |
| 英文摘要 | We present a Chinese female infant with an intermittent form of MSUD whose early development was relatively well. A total of three episodes of stupor and metabolic acidosis developed with a concurrent illness after the age of 13 months. The initial analyses of plasma amino acid and urinary organic acid were normal. Initially, an abnormal oral glucose lactate stimulation test and high signal in the bilateral globus pallidus over T2-weighted brain MRI led us to suspect a mitochondrial disorder. The final diagnosis was made after the patient died at 31 months of age. |
本系統中英文摘要資訊取自各篇刊載內容。