Goldsmith L A, Thorpe J, Roe C R
J Invest Dermatol. 1979 Dec;73(6):530-2. doi: 10.1111/1523-1747.ep12541401.
A middle-aged adult male with a mild form of tyrosinemia II (Richner-Hanhart syndrome) is described. Treatment with a low-tyrosine diet caused a fall in plasma tyrosine and clearing of the hyperkeratosis of the soles. Liver biopsy of this patient revealed low but measurable levels of cytoplasmic tyrosine aminotransferase and elevated levels of the mitochondrial tyrosine-metabolizing enzyme aspartate aminotransferase. It is hypothesized that these enzymes have been induced in sufficient amounts to account for the mild clinical course.
本文描述了一名患有轻度II型酪氨酸血症（Richner-Hanhart综合征）的中年成年男性。采用低酪氨酸饮食治疗后，血浆酪氨酸水平下降，足底角化过度症状消退。对该患者进行肝脏活检发现，细胞质酪氨酸转氨酶水平较低但可检测到，而线粒体酪氨酸代谢酶天冬氨酸转氨酶水平升高。据推测，这些酶已被诱导产生足够的量，从而导致了该患者的轻度临床病程。
