胱氨酸尿症患者合并苯丙酮尿症

Phenylketonuria in a patient with cystinuria.

作者信息

Minami R, Olek K, Wardenbach P

出版信息

Humangenetik. 1975 Aug 25;28(4):319-24. doi: 10.1007/BF00284804.

Abstract

During routine screening procedures for amino-acid disorders by thin-layer chromatography, a 16-year-old boy was found to have phenylketonuria and cystinuria. A phenylalanine and a cystine loading were carried out. The patient was found to be homozygous for phenylketonuria and heterozygous for cystinuria type II. His father was heterozygous for phenylketonuria and cystinuria, while his mother proved to be heterozygous only for phenylketonuria.

摘要

在通过薄层色谱法对氨基酸紊乱进行常规筛查程序时，一名16岁男孩被发现患有苯丙酮尿症和胱氨酸尿症。进行了苯丙氨酸和胱氨酸负荷试验。发现该患者苯丙酮尿症为纯合子，II型胱氨酸尿症为杂合子。他的父亲苯丙酮尿症和胱氨酸尿症均为杂合子，而他的母亲仅被证明苯丙酮尿症为杂合子。