本病属常染色体隐性遗传。其特点为肝肾受损害、低血磷性抗D佝偻病、发育障碍、高酪氨酸血症、高蛋氨酸血症、泛氨酸尿症等。本病于乳儿早期发病者呈急性经过(急性型);于乳儿后期至幼儿前期发病者呈慢性经过(慢性型)。本病的病因为邻羟苯丙酮酸羟化酶缺陷所致。本病在日本已报导100余例,本文报告一例。患儿6.5个月,女性,生后两天出现黄疸,持续二个月,改为人工喂养后,黄疸减 The disease is autosomal recessive. It is characterized by damage to the liver and kidney, hypophosphatemic anti-D rickets, developmental disorders, high tyrosinemia, hypermethinemia, and polyanuria. Early onset of this disease in infants were acute after (acute type); in late infancy to early childhood onset were chronic (chronic type). The cause of this disease is due to hydroxyphenyl pyruvate hydroxylase deficiency. The disease has been reported in Japan in more than 100 cases, this article reports an example. Children 6.5 months, women, two days after birth, jaundice, continued for two months, replaced by artificial feeding, jaundice by