頁籤選單縮合
題名 | Isovaleric Acidemia: Report of One Case=異戊酸血症:一病例報告 |
---|---|
作者 | 侯家瑋; 王作仁; Hou, Jia-woei; Wang, Tso-ren; |
期刊 | 中華民國小兒科醫學會雜誌 |
出版日期 | 19900700、19900800 |
卷期 | 31:4 民79.07-08 |
頁次 | 頁262-265 |
分類號 | 417.5937 |
語文 | eng |
關鍵詞 | 異戊酸血症; 糖尿病病性酮酸血症; Isovaleric acidemia; Diabetic ketoacidosis; Gas chromatography-mass spectrometry; |
中文摘要 | 本文報告一例以糖尿病病性酮酸血症(diabetic ketoacidosis)合併急性腦症(acute encephalothy)以及泛血球減少症(pancytopenia)表現之異戊酸血症(isovaleric academia)。病人乃一3歲男童,過去有輕度精神動作發育遲滯(psychomotor retardation)病史,曾因呼吸道感染後有急性腦症及泛血球減少症住院治療。本次住院乃因上呼吸道感染3天後發生嘔吐、脫水及意識障礙現象;生化學檢查發現有為代謝性酸血症(metabolic acidosis),高血糖、高血氨、高澱粉酶血症(hyper amylasemia)及低血鈣(hypocalcemia),尿液檢查則要有糖尿及酮尿症(glycosuria and ketonuria),血液相則有泛血球減少症(pancytopenia)“其他較特殊的是昏迷時身上發出異常臭味。經由氣相層析質譜儀(gas chromatography-mass spectrometry)分析尿液,發現有相當高濃度之異戊酸甘胺酸(isovalerylglycine)及3一貝他羥異戊酸(3-β-hydroxylisovaleric acid)等代謝物,吾等診斷為異戊酸血症。經由支持療法及低蛋白飲食(每天每公斤小於1.5公克),病人情況逐漸改善出院。 |
英文摘要 | A case of isovaleric acidemia appearing as diabetic ketoacidosis with acute encephalopathy and pancytopenia was reported. A three-year-old male patient, with mild psychomotor retardation, had recurrent bouts of acute encephalopathy and pancytopenia after episodes of upper respiratory infection. At admission, he had vomiting associated with dehydration, acidosis, ketonuria, coma and a pungent, rather unpleasant odor. Laboratory features included hyperglycemia, hyperammonemia, hyperamylasemia, hypocalcemia, neutropenia, thrombocytopenia and subsequent anemia. Urine organic acid profiles showed profuse amount of 3-beta-hydroxyisovaleric acid (295 mg/ml) and isovalerylglycine (616 mg/ml) by gas chromatography-mass spectrometry. Levels of amino acids in the serum and urine were normal. The patient received treatment with rehydration and insulin, with rapid improvement. After the acute illness, blood glucose levels returned to normal. The patient was doing well on a low-protein diet in recent 3 months. |
本系統之摘要資訊系依該期刊論文摘要之資訊為主。