Ogier H, Hervé F, Saudubray J M, Dufier J L, Charpentier C, Lemonnier F, Moreno J L, Frezal J
Ann Med Interne (Paris). 1986;137(2):129-32.
The authors report the cases of two unrelated children 16 and 5 years of age respectively, affected with hypertyrosinaemia type II. This condition is characterized by palmo-plantar hyperkeratosis associated with a herpetiform keratitis. The diagnosis is based on the finding of hypertyrosinaemia and hypertyrosyluria, and may be confirmed by their biopsy findings of a cytoplasmic tyrosine amino-transferase deficiency. It is a hereditary autosomal recessive disease. A low phenylalanine and tyrosine diet produced a spectacular improvement but the ocular complications could have been avoided by an earlier diagnosis.
作者报告了分别为16岁和5岁的两名无血缘关系儿童患II型高酪氨酸血症的病例。这种病症的特征是掌跖角化过度并伴有疱疹样角膜炎。诊断基于高酪氨酸血症和高酪氨酸尿症的发现，并且可通过细胞质酪氨酸氨基转移酶缺乏的活检结果得到证实。这是一种常染色体隐性遗传病。低苯丙氨酸和酪氨酸饮食产生了显著改善，但眼部并发症本可通过早期诊断得以避免。
