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頁籤選單縮合
題名 | Holocarboxylase Synthetase Deficiency: Report of One Case=全脫羧酶合成酶缺乏症:一病例報告 |
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作者 | 周宜卿; 王仲興; 林瑋德; 林欣辰; 蔡長海; 王作仁; 蔡輔仁; Chou, I-ching; Wang, Chung-shing; Lin, Wei-der; Lin, Hsin-chen; Tsai, Chang-hai; Wang, Tso-ren; Tsai, Fuu-jen; |
期刊 | 臺灣兒科醫學會雜誌 |
出版日期 | 20061100、20061200 |
卷期 | 47:6 民95.11-12 |
頁次 | 頁309-311+331 |
分類號 | 517.509 |
語文 | eng |
關鍵詞 | 全脫羧酶合成酶; 多種羧酶缺乏; 生物素; R508W突變; Holocarboxylase synthetase; Multiple carboxylase deficiency; Biotin; R508W mutation; |
中文摘要 | 全脫羧酶合成酵素是一種酵素,使生物素合併羧基。它的缺乏,造成多種依賴生物素的羧酶酵素缺乏。我們報告一例此病發病在32個月大的男孩,主要的症狀為疹子、嘔吐、神智不清、有機磷味道、與低血壓。實驗室檢查發現代謝性酸中毒、酮酸血、高血氨。尿液有機酸檢驗發現生物素利用異常,造成多種依賴生物素的羧酶酵素缺乏。基因分析生物素酵素正常,但全脫羧酶合成酵素分析,在1809C->T (R508W)處發現同合子變異。R508W突變是一罕見的突變,造成晚發型病例。此病人對生物素治療反應良好,三年追蹤生長與神經發展正常。因此,早期發現與治療可預防併發症。 |
英文摘要 | Holocarboxylase synthetase (HCS) is an enzyme that catalyzes biotin incorporation into carboxylases, and its deficiency causes biotin-responsive multiple carboxylase deficiency. We report a patient who had his first episode at 32 months of age. The main clinical findings were a characteristic rash, projectile vomiting, progressive consciousness loss, organophosphate order, and hypotension. Laboratory examinations showed metabolic acidosis with ketolactic acidosis, hyperammonemia, and urine organic acid profile suggestive of a biotin utilization abnormality consistent with multiple carboxylase deficiency. Nucleotide sequence analysis of the biotinidase gene of the patient revealed negative finding, however, analysis of HCS gene found a homozygous 1809C->T (R508W) mutation. R508W is a rare mutation in Taiwanese HCS deficiency patients, which is associated with the late-onset phenotype. The patient responded dramatically to biotin, and has remained normal growth and development during more than three years of follow-up. Therefore, a high index of suspicion for timely diagnosis and treatment could prevent severe complications. |
本系統之摘要資訊系依該期刊論文摘要之資訊為主。