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Richner-Hanhart综合征是由于缺乏一种可溶性酪氨酸氨基转移酶而引起的血酪氨酸含量过多症,本综合征又名眼皮肤酪氨酸代谢紊乱症,系隐性遗传。本文报告一例女孩,18个月,患有双侧树枝状角膜炎,皮肤点状角化,舌岛屿状粘膜白斑,智力迟钝。血酪氨酸量高达52毫克/100毫升(正常1.2～1.8毫克/100毫升),尿内有大量对羟苯乙酸(7.65毫克/24小时),对羟苯乳酸(33.75毫克/24小时),对羟苯丙酮酸(12.37毫克/24小时)。肝脏活检证实缺乏可溶性酪氨酸氨基转移酶。饮食中减少
Richner-Hanhart syndrome is due to the lack of a soluble tyrosine aminotransferase caused by excessive blood tyrosine levels, the syndrome, also known as ocular skin tyrosine metabolic disorders, the Department of recessive inheritance. This article reports a case of a girl 18 months old with bilateral dendritic keratitis, skin punctate keratosis, tongue island leukoplakia, mental retardation. The amount of blood tyrosine is as high as 52 mg / 100 ml (normal 1.2-1.8 mg / 100 ml), and a large amount of para-hydroxybenzene acetic acid (7.65 mg / 24 hours), parahydroxybenzene lactic acid (33.75 mg / 24 hours) Para-hydroxyphenylpyruvate (12.37 mg / 24 hours). Liver biopsy confirmed the lack of soluble tyrosine aminotransferase. Reduce diet