Biotin-responsive carboxylase deficiency associated with subnormal plasma and urinary biotin.
Biotin-responsive carboxylase deficiency associated with subnormal plasma and urinary biotin.
复制标题
生物素反应性羧化酶缺乏症与血浆和尿生物素低于正常水平有关。
DOI：
10.1056/nejm198104023041404
复制
发表时间：
1981
期刊：
影响因子：
--
通讯作者：
Sweetman,L
中科院分区：
文献类型：
--
作者：
Thoene,J;Baker,H;Yoshino,M;Sweetman,L
越来越多的患者被诊断为生物素反应性多重羧化酶缺乏症。12345678这种遗传性疾病涉及生物素代谢缺陷，并导致至少三种含生物素的羧化酶缺乏：丙酰辅酶a羧化酶（PCC）、3-甲基戊酰辅酶a羧化酶（MCC）和丙酮酸羧化酶（PC）。所有患者对每天口服10mg或更多生物素有反应，临床和生化异常恢复正常。这种疾病似乎有两种形式：新生儿形式和少年形式。新生儿形式出现在生命的最初几周，伴有代谢性酸中毒和酮症，并可能…
AN increasing number of patients have been diagnosed as having biotin-responsive multiple carboxylase deficiency.12345678This genetic disorder involves defects in the metabolism of biotin and produces deficiencies of at least three biotin-containing carboxylases: propionyl-CoA carboxylase (PCC), 3-methylcrotonyl-CoA carboxylase (MCC), and pyruvate carboxylase (PC). All patients have responded to oral administration of 10 mg or more of biotin per day, with normalization of the clinical and biochemical abnormalities.There appear to be two forms of the disorder: a neonatal form and a juvenile form. The neonatal form presents in the first weeks of life, with metabolic acidosis and ketosis and may . . .