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苯丙酮尿症(PKU)是小儿期常见的一种遗传性疾病,是导致小儿智力不全的一个重要原因。本病除给患儿造成痛苦外,还给家庭和社会造成负担。然而,本病又是少数可以治疗的先天性代谢障碍疾病之一,若能早期发现、及时治疗,则其病情发展完全可以控制。目前,世界上许多国家将本病列为法定疾病,在新生儿中普遍进行筛查。我国于1963年首次报告本病,但迄今二十年来,后续报告不多。现将我科1981～1982年收治的10例简要报告如下:
Phenylketonuria (PKU) is a common genetic disease in infancy and is an important cause of mental retardation in children. In addition to suffering from this disease to children, but also to the family and society create a burden. However, this disease is one of the few diseases of congenital metabolic disorder that can be treated. If it can be detected early and treated promptly, its condition can be completely controlled. At present, many countries in the world regard the disease as a statutory disease, and screening is generally conducted in newborns. Our country reported the disease for the first time in 1963, but for the past two decades there have been few follow-up reports. Now my department from 1981 to 1982 admitted 10 cases brief report as follows: