Alm J, Bodegård G, Larsson A, Nyberg G, Zetterström R
Acta Paediatr Scand. 1986 Jul;75(4):619-25. doi: 10.1111/j.1651-2227.1986.tb10261.x.
Twenty-three children, who were detected by neonatal PKU screening, were followed for 8-18 years in one paediatric centre. Dietary treatment was started if the blood phenylalanine level exceeded 0.72 mmol/l. All 23 infants were initially given a low phenylalanine diet. The growth and development rates of the children did not differ significantly from those in a reference population, although one child had mild mental retardation and another had a short attention span. Fourteen children were still on a strict phenylalanine-restricted diet on their last follow-up (at 8-18 years of age). In nine children who were initially put on a low phenylalanine diet, it was possible to normalize the diet between 1/2 and 10 years of age, while maintaining the blood phenylalanine levels between 0.25 and 0.72 mmol/l. It seems likely that those of our patients who markedly increased their phenylalanine tolerance during childhood had a regulatory mutation of the phenylalanine hydroxylase system. A continuous reevaluation of each child treated with a low phenylalanine diet reduces the use of unnecessarily restricted diets.
在一家儿科中心，对通过新生儿苯丙酮尿症筛查检测出的23名儿童进行了8至18年的随访。如果血苯丙氨酸水平超过0.72 mmol/L，便开始饮食治疗。所有23名婴儿最初都给予低苯丙氨酸饮食。这些儿童的生长发育速度与参照人群相比无显著差异，尽管有一名儿童有轻度智力发育迟缓，另一名儿童注意力持续时间短。在最后一次随访（8至18岁）时，14名儿童仍严格遵循限制苯丙氨酸的饮食。在最初采用低苯丙氨酸饮食的9名儿童中，有可能在1/2至10岁之间使饮食正常化，同时将血苯丙氨酸水平维持在0.25至0.72 mmol/L之间。我们的患者中那些在儿童期显著提高苯丙氨酸耐受性的人，似乎存在苯丙氨酸羟化酶系统的调节突变。对每一名接受低苯丙氨酸饮食治疗的儿童进行持续重新评估，可减少不必要的严格限制饮食的使用。
