頁籤選單縮合
題名 | Late-Onset Holocarboxylase Synthetase Deficiency with Homologous R508W Mutation=具R508W點突變之遲發型Holocarboxylase Synthetase缺乏症 |
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作者姓名(中文) | 胡務亮; 周西平; 蔡文友; | 書刊名 | 臺灣醫學會雜誌 |
卷期 | 99:2 2000.02[民89.02] |
頁次 | 頁174-177 |
分類號 | 415.9 |
關鍵詞 | R508W點突變; 遲發型Holocarboxylase Synthetase缺乏症; Holocarboxylase synthetase; Multiple carboxylase deficiency; Biotin; R508W mutation; |
語文 | 英文(English) |
英文摘要 | Holocarboxylase synthetase (HCS) is responsible for the biotinylation of pyruvate carboxylase, propionyl coenzyme A (CoA) carboxylase, □ -methylcrotonoyl CoA carboxylase, and acetyl CoA carboxylase. We report on a patient with HCS deficiency resulting in a rare metabolic disease. The patient, a 2-year-old boy, presented with vomiting, consciousness disturbance, and dyspnea. Laboratory examinations showed hyperglycemia, hyperammonemia, lactic acidosis, and excretion of large amounts of □ -hydroxyis valerate and □ -methylcrotonylglycine in the urine. After 10 days of treatment with biotin 5 mg □ kg □ day, the abnormal organic acids in his urine had almost completely disappeared. There were no subsequent attacks, and his growth and development remained normal during 1 year of follow-up. Nucleotide sequence analysis of the HCS cDNA of the patientevealed a homozygous 1809C □ T (R508W) mutation. The R508W mutation is found worldwide, and might be associated with higher residual HCS activity than other mutations. Late-onset HCS deficiency cannot be differentiated clinically from biotinidase deficiency. Prompt and correct diagnosis is important for these biotin-responsive disorders. |
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