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苯丙酮尿病是Folling在1934年发现的。曾一度被称为苯丙酮酸性精神幼稚病,后由Penrose等改为苯丙酮尿病(PKU)。本病向来被作为研究先天性代谢缺陷的模式。近年来,由于基础科学的突飞猛进,本病的发病机理,临床表现、诊断、预防和治疗等各方面都有新的进展。发病率据国外报道,患者约占精神病院住院者的0.5～1.0％;估计群体的发病率约1:16,000。性别不拘。犹太人和黑人的发病率较低。遗传学本病以常染色体隐性方式遗传。患儿父
Phenylketonuria was discovered by Folling in 1934. Once known as phenylketonergic acidosis, it was changed from penrose to phenylketonuria (PKU). The disease has always been used as a model to study congenital metabolic defects. In recent years, due to the rapid advances in basic science, new progress has been made in all aspects of the pathogenesis, clinical manifestation, diagnosis, prevention and treatment of this disease. Incidence According to foreign reports, patients account for about 0.5 to 1.0% of hospitalized persons in psychiatric hospitals. The estimated incidence of the group is about 1: 16,000. Gender does not matter. The incidence of Jews and blacks is low. Genetics The disease is autosomally recessive. Children father