Koch R, Azen C, Friedman E G, Fishler K, Baumann-Frischling C, Lin T
Childrens Hospital Los Angeles, CA 90027, USA.
Eur J Pediatr. 1996 Jul;155 Suppl 1:S90-2. doi: 10.1007/pl00014260.
Forty-three adults with classical phenylketonuria were identified by neonatal screening and treated with a phenylalanine (Phe) restricted diet. Nineteen have remained on dietary treatment with varying levels of blood Phe control and 24 have discontinued the diet at an average age of 7.8 years. Follow up at an average age of 22 years revealed that the cohort remaining on dietary treatment have achieved substantially better social and academic achievement than the 24 who discontinued dietary treatment. Another group of 19 adults who were not diagnosed until an average age of 2.5 years have also been evaluated after an average of 22 years on a Phe restricted diet. This report is based upon Wechsler Adult Intelligence Revised Test scores, attendance at college, employment and marital status.
通过新生儿筛查确定了43名患有典型苯丙酮尿症的成年人,并采用低苯丙氨酸饮食进行治疗。其中19人持续接受饮食治疗,血苯丙氨酸(Phe)水平得到不同程度的控制,24人在平均7.8岁时停止了饮食治疗。在平均22岁时进行随访发现,继续接受饮食治疗的这一组在社交和学业成就方面比停止饮食治疗的24人有显著更好的表现。另一组19名成年人平均在2.5岁时才被诊断出来,在接受平均22年的低苯丙氨酸饮食治疗后也进行了评估。本报告基于韦氏成人智力量表修订版测试分数、大学入学情况、就业情况和婚姻状况。