Fisch R O, McCabe E R, Doeden D, Koep L J, Kohlhoff J G, Silverman A, Starzl T E
J Pediatr. 1978 Oct;93(4):592-6. doi: 10.1016/s0022-3476(78)80893-2.
A girl with hereditary tyrosinemia, diagnosed at 6 months of age, was treated with a diet restricted in phenylalanine and tyrosine. At 9 1/2 years of age she developed an acutely enlarged liver and spleen, and the diagnosis of hepatocarcinoma was made. The patient received a liver transplant and tyrosine metabolites became normal while she was receiving a regular diet. Three months later, an infected thrombosis of the portal vein caused her death. Liver transplant appears to be an effective method of enzyme replacement in tyrosinemia and should be considered for prevention of hepatoma.
一名6个月大时被诊断出患有遗传性酪氨酸血症的女孩，接受了限制苯丙氨酸和酪氨酸的饮食治疗。9岁半时，她的肝脏和脾脏急剧肿大，被诊断为肝癌。患者接受了肝移植，在接受常规饮食期间，酪氨酸代谢产物恢复正常。三个月后，门静脉感染性血栓形成导致她死亡。肝移植似乎是酪氨酸血症中酶替代的一种有效方法，应考虑用于预防肝癌。
