一名血清生物素酶和成纤维细胞全羧化酶合成酶活性正常的8岁男孩患生物素反应性多种羧化酶缺乏症。
Biotin-responsive multiple carboxylase deficiency in an 8-year-old boy with normal serum biotinidase and fibroblast holocarboxylase-synthetase activities.
作者信息
Holme E, Jacobson C E, Kristiansson B
机构信息
Department of Clinical Chemistry, Gothenburg University, Sahlgren's Hospital, Sweden.
出版信息
J Inherit Metab Dis. 1988;11(3):270-6. doi: 10.1007/BF01800369.
PMID:3148068
Abstract
An 8-year-old boy with late onset multiple carboxylase deficiency is described. Biotinidase deficiency and holocarboxylase-synthetase deficiency have been excluded. A very slow biochemical response to biotin was found. The decrease in urinary organic acid excretion followed first-order kinetics with a half-life of about 50 days. The initially low carboxylase activities in thrombocytes were increased but not normalized after 3 months of treatment.
摘要
本文描述了一名患有迟发性多种羧化酶缺乏症的8岁男孩。已排除生物素酶缺乏症和全羧化酶合成酶缺乏症。发现该男孩对生物素的生化反应非常缓慢。尿有机酸排泄量的减少遵循一级动力学，半衰期约为50天。治疗3个月后，血小板中最初较低的羧化酶活性有所增加，但未恢复正常。
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