Raimann E, Cornejo V, Perales C G, Barros T, Moraga M, Colombo M
Unidad de Neuropsicología, Instituto de Nutrición y Tecnología de los Alimentos (INTA), Universidad de Chile.
Rev Med Chil. 1992 Sep;120(9):1022-6.
A screening program for the early diagnosis of phenylketonuria was initiated 24 months ago in the Servicio de Salud Metropolitano Central. Since then, 2 cases with phenylketonuria have been early diagnosed. These patients started their nutritional treatment, consisting of a phenylalanine restricted diet at 14 and 17 days of age. The children are submitted to periodic medical, anthropometric, neurologic, biochemical and psychometric analysis. With a strict control they maintain phenylalanine plasma levels between 2 and 6 mg%. Both patients have a normal psychomotor development at 4.5 and 6.5 months of age and an anthropometric development at p50 of NCHS.
24个月前,首都中央卫生服务局启动了一项苯丙酮尿症早期诊断筛查项目。自那时以来,已早期诊断出2例苯丙酮尿症患者。这些患者在14天和17天大时开始了营养治疗,包括限制苯丙氨酸饮食。这些儿童接受定期的医学、人体测量学、神经学、生化和心理测量分析。通过严格控制,他们的血浆苯丙氨酸水平维持在2至6mg%之间。两名患者在4.5个月和6.5个月大时精神运动发育正常,人体测量发育处于美国国家卫生统计中心第50百分位。