Impaired intestinal absorption of biotin in juvenile multiple carboxylase deficiency.
Impaired intestinal absorption of biotin in juvenile multiple carboxylase deficiency.
复制标题
幼年多重羧化酶缺乏症肠道对生物素的吸收受损。
DOI：
10.1056/nejm198303173081107
复制
发表时间：
1983
期刊：
影响因子：
--
通讯作者：
Baker,H
中科院分区：
文献类型：
--
作者：
Thoene,JG;Lemons,R;Baker,H
对一名5岁白人女孩的胃肠道吸收和肾脏排泄生物素的研究表明，生物素的吸收受损，正常的肾脏对生物素的清除率高，与细胞对生物素的吸收缺陷一致。该女孩先前被证明具有生物素反应性的青少年多重羧化酶缺乏和生物素全羧化酶合成酶的正常活性。结果还表明，尽管这两种表型都可能是由全新羧化酶合成酶缺乏引起的，但另一种遗传缺陷，即生物素吸收受损，也可能是导致幼年生物素反应性多重羧化酶缺乏症的原因。
Studies of gastrointestinal absorption and renal excretion of biotin in a white girl 5 years old, with previously proved biotin-responsive juvenile multiple carboxylase deficiency and normal activity of biotin holocarboxylase synthetase, indicated impaired absorption of biotin and high normal renal clearance of biotin, consistent with a defect in cellular uptake of biotin. The results also showed that although both phenotypes may be produced by holocarboxylase synthetase deficiency, another genetic defect, i.e., impaired absorption of biotin, can also be responsible for the syndrome of juvenile biotin-responsive multiple carboxylase deficiency.