低苯丙氨酸饮食治疗26例苯丙酮尿症的疗效观察

我院5年共收治PKU患儿41例,其中新生儿筛查发现10例。对坚持用低苯丙氨酸饮食治疗的26例进行了系统观察。生后6月以内就诊的9例中8例患儿体格及智能发育均正常;生后6月以上就诊的17例患儿中只有4例接近正常。强调新生儿筛查、早期发现、早期治疗对预防智力低下的必要性。治疗中应有充足的无苯丙氨酸奶粉及低苯丙氨酸食品,才能确保患儿的治疗效果。

THE THERAPEUTIC EFFECTS OF LOW PHENYLALANINE DIET ON THE 26 PATIENTS WITH PHENYLKETONURIA

Phenylketonuria (PKU) is a common congenital disease due to abnormal amino acid metablism, which retards the intelligence development. Fourty one PKU patients including 10 cases discovered by newborn survey, were treated in China-Japan Friendship Hospital from Nov. 1984 to Nov. 1989. Among them, we examined 26 cases who took phenylalanine restricted diet without interruption. For infants, phenylalanine free milk power was administrated. Older children were recommended to take wheat starch as main diet. It was found that the physical and mental development of 8 cases out of 9 patients treated before the age of six months were nearly normal. It suggested that newborn survey, early diagnosis and treatment can prevent the patients from intelligence of low status.