https://scholars.lib.ntu.edu.tw/handle/123456789/526081
標題: | Late-onset holocarboxylase synthetase deficiency with homologous R508W mutation | 作者: | WUH-LIANG HWU Suzuki Y. Yang X. Li X. Chou S.-P. Narisawa K. WEN-YU TSAI |
關鍵字: | Biotin; Holocarboxylase synthetase; Multiple carboxylase deficiency; R508W mutation | 公開日期: | 2000 | 卷: | 99 | 期: | 2 | 起(迄)頁: | 174-177 | 來源出版物: | Journal of the Formosan Medical Association | 摘要: | Holocarboxylase synthetase (HCS) is responsible for the biotinylation of pyruvate carboxylase, propionyl coenzyme A (CoA) carboxylase, β- 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 β- hydroxyisovalerate and β-methylcrotonylglycine in the urine. After 10 days of treatment with biotin 5 mg · kg-1 · day-1, 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 patient revealed 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. |
URI: | https://www.scopus.com/inward/record.uri?eid=2-s2.0-0034030910&partnerID=40&md5=52086205f8ab4c5443e3c2eda26d5b5a https://scholars.lib.ntu.edu.tw/handle/123456789/526081 |
ISSN: | 0929-6646 | SDG/關鍵字: | biotinidase; article; case report; chemical analysis; consciousness disorder; disorders of carbohydrate metabolism; dyspnea; enzyme deficiency; gene mutation; human; male; preschool child; sequence analysis; vomiting; Carbon-Nitrogen Ligases; Child, Preschool; Humans; Male; Mutation |
顯示於: | 醫學系 |
在 IR 系統中的文件,除了特別指名其著作權條款之外,均受到著作權保護,並且保留所有的權利。