摘要
本文报告18例苯酮尿症,男女各9例,均具典型临床表现,尿三氯化铁试验均呈阳性反应,9例行苯丙氨酸水平测定,均明显高于正常水平。全部病例接受了EEG检查,其结果显示了脑电图异常的式样似与年龄及癲痫发作类型有关。文内对接受低苯丙氨酸饮食治疗且连续在本院随诊的12例病人的预后进行分析,强调尽早开始饮食治疗的重要性。
This paper is a retrospective study of 18 cases of phenylketonuria. The patients came to the hospital at the age of eight months to fifteen years. Clinically the patients showed various degrees of mental retardation, epileptic attacks, changes in the hair and skin, positive ferric chloride reaction of urine, high blood phenylalanine in nine cases examined and abnormal electroencephalogram related tothe age and the type of attacks. Three patients had a family history of phenylketonuria. Twelve patients began to receive low phenylalanine diet at the age of 8 months to 9 years. Early treatment leads to better results.
出处
《临床神经病学杂志》
CAS
1992年第3期153-155,共3页
Journal of Clinical Neurology
