西欧氨基酸代谢遗传性疾病管理的现行实践综述。

Hum Nutr Appl Nutr. 1986;40 Suppl 1:61-9.

Phenylketonuria is still a brilliant example that early diagnosis, immediate onset of treatment and carefully controlled diet enable the patient to grow up normally. There are, however, other inherited disorders of amino acid metabolism in which the prognosis of the affected patients--despite some progress in the recent past--is still very poor.

苯丙酮尿症仍是一个很好的例子，即早期诊断、立即开始治疗并严格控制饮食能使患者正常成长。然而，还有其他一些氨基酸代谢遗传性疾病，尽管近年来有一些进展，但受影响患者的预后仍然很差。