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題名 | Biotin Responsive Multiple Carboxylase Deficiency Presenting as Diabetic Ketoacidosis=以糖尿病酮酸中毒表現之生物素反應性多脫羧酶缺乏症 |
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作者 | 侯家瑋; Hou, Jia-woei; |
期刊 | 長庚醫學 |
出版日期 | 20040200 |
卷期 | 27:2 2004.02[民93.02] |
頁次 | 頁129-133 |
分類號 | 415.668 |
語文 | eng |
關鍵詞 | 糖尿病酮酸中毒; 生物素; 多脫羧酶缺乏症; 全脫羧酶合成酶; Diabetic ketoacidosis; Biotin; Multiple carboxylase deficiency; Holocarboxylase synthetase; |
中文摘要 | 多脫羧酸缺乏症為一罕見,生物素依賴型的先天代謝疾病,它可因全脫羧?合成?或生物素?缺少引起。前者多為早發型,後者則為晚發型。本報告為一位二歲半女孩以糖尿病酮酸中毒為主要表現,包括嚴重代謝性酸血性、高酮血症、高血壓、高乳酸血症、高血氨症、及有機酸尿症。以高劑量生物素(10毫克/天)治療後病人症狀及實驗室變化已有明顯改善,其他慢性症狀只有發展遲緩,皮疹及毛髮較少。經由尿液有機酸氣相光譜質譜儀變化及血液串聯質譜儀均符合多脫羧?缺乏症。由於本病人之生物素?活性為正常,因此可能是較少見的晚發型全脫羧?合成?缺乏症。 |
英文摘要 | Multiple carboxylase deficiency (MCD) is a rare inherited metabolic disease of biotin dependency due to deficiency of holocarboxylase synthetase (HCS) or biotinidase deficiency. A 30-month-old female patient who presented with the initial features of diabetic ketoacidosis (severe metabolic acidosis, ketosis, and hyperglycemia), lactic acidemia, moderate hyperammonemia, and generalized organic aciduria is described. Associated symptoms and signs included erythematous skin rashes, alopecia and developmental delay. The patient responded dramatically to treatment with biotin (10 mg/day) showing normalization of clinical symptoms and most biochemical abnormalities. Based on the urine organic profile by gas chromatography/mass spectrometry (GC/MS), the diagnosis of MCD was made. A plasma tandem mass study confirmed this diagnosis. The biotinase activity in serum was normal, indicating that this was a rare case of late-onset HCS deficiency. |
本系統之摘要資訊系依該期刊論文摘要之資訊為主。