[Recent advances of the treatment in metabolic disorders].
Familial amyloid polyneuropathy (FAP) and adult type (type II) citrullinemia are caused by metabolic disorders in liver: the vast majority of serum amyloid precursors (variant forms of transthyretin) in FAP are produced in liver and adult citrullinemia is ascribed to a deficiency of argininosuccinate synthetase (ASS), one of the five urea cycle enzymes in liver. Liver transplantation is, therefore, expected to correct the underlying metabolic abnormalities in both diseases. We performed partial liver transplantation using grafts from living donors for 13 patients with FAP and outcomes of 10 patients are satisfactory: polyneuritic and autonomic symptoms are gradually improving. The remaining 3 patients, all of whom were at advanced stages of the disease, had adverse postoperative results, presumably because of serious dysfunctions of amyloid-laden systemic organs. Similarly seven patients with adult citrullinemia received this transplantation and all recovered uneventfully. After operation plasma levels of ammonia and citrulline were soon normalized and five patients had returned to their previous social lives. Liver transplantation is a very promising therapy for the liver-based metabolic disorders.
Ikeda
S
S
Department of Medicine (Neurology), Shinshu University School of Medicine.
D017772:Amyloid Neuropathies / Q000453:epidemiology / Q000601:surgery; D020159:Citrullinemia / Q000601:surgery*; D006801:Humans; D007564:Japan / Q000453:epidemiology; D016031:Liver Transplantation; D009154:Mutation; D011228:Prealbumin / Q000235:genetics; D016896:Treatment Outcome
D011228:Prealbumin