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題 名 | Isovaleric Acidemia Diagnosed Promptly by Tandem Mass Spectrometry: Report of One Case=以串聯式質譜儀快速診斷異戊酸血症:一病例報告 |
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作 者 | 魏長菁; 林瑋德; 蔡輔仁; 鄔哲源; 彭慶添; 蔡長海; | 書刊名 | 臺灣兒科醫學會雜誌 |
卷 期 | 45:4 民93.07-08 |
頁 次 | 頁236-238+260 |
分類號 | 415.135 |
關鍵詞 | 異戊酸血症; 全血球減少; 串聯式質譜儀; Isovaleric acidemia; Pancytopenia; Tandem mass spectrometry; |
語 文 | 英文(English) |
中文摘要 | 異戊酸血症是以體染色體隱性遺傳的罕見疾病,患者在急性期會以嚴重代謝性酸中毒,嘔吐和意識狀態改變甚至死亡來表現。本文報告一例後來證實爲異戊酸血症的婦嬰在出生後兩個星期以反覆急性嘔吐及或活動力減退合併嚴重嗜中性白血球減少、貧血與血小板降低入院。病人並無代謝性酸中毒或高血氨症。她接受低白胺酸飲食及補充甘胺酸和肉毒減的治療。並且展開爲期六週以患聯式質譜儀監測血中代謝物及血液象。我們發現血球在治療過程中隨著血中代謝物異戊酸肉毒減的提昇而增加。 |
英文摘要 | Isovaleric acidemia (IVA), a recessive autosomal disorder, is caused by isovaleryl-CoA dehydrogenase deficiency. Isovaleric acidemia may present with symptoms during the acute stage of severe metabolic acidosis, ketosis, vomiting and altered mental status. This report concerns a 2-month-old female infant diagnosed as isovaleric acidemia by tandem mass spectrometry. She presented with two episodes of vomiting, poor activity and pancytopenia without obvious metabolic acidosis and hyperammonemia. She received combined therapy of L-carnitine, glycine and low protein and leucine diet. Hemogram and serum isovalerylcarnitine (IVC) were measured during the treatment. The depressed leukocyte and platelets recovered when serum isovalerylcarnitine level increased. |
本系統中英文摘要資訊取自各篇刊載內容。