母女患变异型枫糖尿症。
Variant maple syrup urine disease in mother and daughter.
作者信息
Zaleski L A, Dancis J, Cox R P, Hutzler J, Zaleski W A, Hill A
出版信息
Can Med Assoc J. 1973 Aug 18;109(4):299-300 passim.
Intermittent MSUD in a mother and her daughter is reported. Fibroblast cultures were studied for branched-chain keto acid decarboxylase and results show that the mother has approximately 12% while the daughter has 5% of the normal enzyme activity. Other key members in the family were also studied for enzyme activity. It appears that the child has inherited an abnormal gene from her homozygous mother and another abnormal gene from her heterozygous father.A classification based on the degree of residual enzyme activity and protein tolerance places the mother in grade III and the daughter in grade II category. Classical MSUD, where the enzyme activity is less than 2% of normal, belongs to grade I.
据报道，一位母亲及其女儿患有间歇性枫糖尿症（MSUD）。对成纤维细胞培养物进行了支链酮酸脱羧酶研究，结果显示母亲的正常酶活性约为12%，而女儿为5%。还对该家族的其他关键成员进行了酶活性研究。看来孩子从纯合子母亲那里继承了一个异常基因，又从杂合子父亲那里继承了另一个异常基因。根据残余酶活性程度和蛋白质耐受性进行的分类将母亲归为III级，女儿归为II级。酶活性低于正常水平2%的典型MSUD属于I级。
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