Bloomer J R, Sharp H L
Hepatology. 1984 Jan-Feb;4(1 Suppl):18S-21S. doi: 10.1002/hep.1840040707.
The liver may be involved in metabolic disorders in two ways. (i) Due to its critical role in several metabolic pathways, the liver may be the major site of expression of a biochemical abnormality. For example, in Type I Crigler-Najjar syndrome, absence of hepatic bilirubin glucuronyl transferase activity causes severe unconjugated hyperbilirubinemia which invariably leads to death from kernicterus. (ii) The liver may also be structurally damaged by the metabolic disorder. Several patients with protoporphyria have died in hepatic failure due to liver damage caused by protoporphyrin deposition. Numerous other metabolic disorders can be sited in which significant liver involvement occurs. In many of these disorders, there is no effective medical therapy.
肝脏可能通过两种方式参与代谢紊乱。（i）由于其在多种代谢途径中的关键作用，肝脏可能是生化异常表达的主要部位。例如，在I型克里格勒 - 纳贾尔综合征中，肝脏胆红素葡萄糖醛酸转移酶活性的缺乏会导致严重的非结合性高胆红素血症，这 invariably 会导致核黄疸死亡。（ii）肝脏也可能因代谢紊乱而受到结构损伤。一些原卟啉症患者因原卟啉沉积导致肝脏损伤而死于肝功能衰竭。还可以列举许多其他有明显肝脏受累的代谢紊乱。在许多这些疾病中，没有有效的药物治疗方法。
