同胞3人有中枢神经系统障碍,其中两例支链氨基酸代谢紊乱对生物素起反应。1例是由于缺乏丙酸-辅酶A羧酶(PCC)引起丙酸血症,另1例是由于缺乏分解亮氨酸所必需的β-甲基巴豆-辅酶A羧酶(MCC)引起β-甲基巴豆甘氨酸尿症;第3例是多发羧酶缺乏病。现报告如下。病例报告双亲无亲缘关系,10次妊娠结果5个子女健在,两个自发性流产,3个发病。所有发病的同胞最初在外表上是正常的,怀孕、分娩和 Three fellow citizens had central nervous system disorders, of which two branched-chain amino acid metabolism disorders respond to biotin. One was due to the lack of propionic acid-coenzyme A carboxylase (PCC) causing propionatemia and the other was beta-methyl croton-coenzyme A carboxylase (MCC), which was necessary for lack of leucine cleavage, Methyl croton glycineuria; the third case is multiple carboxylase deficiency. The report is as follows. Case reports No relationship between parents, 10 pregnancies 5 children alive, two spontaneous abortions, 3 onset. All affected siblings were initially normal in appearance, were pregnant, delivered and delivered