Holocarboxylase synthetase deficiency: a case report and mutatio detection

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題名:	Holocarboxylase synthetase deficiency: a case report and mutatio detection
作者:	周宜卿;王仲興;林瑋德(Wei-De Lin);林欣辰(Hsin-Chen Lin);蔡長海;(王作仁);蔡輔仁(Tsai,Fuu-Jen)*
貢獻者:	中醫學院針灸研究所;中國附醫兒科部
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
日期:	2006-11
上傳時間:	2009-08-20 19:33:38 (UTC+8)
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。 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.
關聯:	Acta Paediatrica Taiwanica47(6):309~311
顯示於類別:	[針灸研究所] 期刊論文

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