Current strategies for the treatment of hereditary tyrosinemia type I

被引：20

作者：

Ashorn M. ^{[1
]}

Pitkänen S. ^{[2
]}

Salo M.K. ^{[1
]}

Heikinheimo M. ^{[3
,4
]}

机构：

[1] Paediatric Research Centre, University of Tampere, Tampere

[2] Department of Dermatology, University of Helsinki, Helsinki

[3] Children's Hospital, Program for Reproductive and Developmental Biology, University of Helsinki, Helsinki

[4] Children's Hospital, University of Helsinki, Helsinki, 00290

来源：

Pediatric Drugs | 2006年 / 8卷 / 1期

关键词：

Liver Transplantation; Tyrosinemia; Nitisinone; Succinylacetone; Hereditary Tyrosinemia Type;

D O I：

10.2165/00148581-200608010-00004

中图分类号：

学科分类号：

摘要：

Hereditary tyrosinemia type I (HT-I) is the most common of the three known diseases caused by defects in tyrosine metabolism. This type of tyrosinemia is caused by a mutation in the gene coding for fumarylacetoacetate hydrolase; several mutations in this gene have been identified. The main clinical features of HT-I are caused by hepatic involvement and renal tubular dysfunction. Dietary intervention with restriction of phenylalanine and tyrosine together with supportive measures can ameliorate the symptoms, but given the high risk for hepatocellular carcinoma, a cure for these patients has so far been possible only with liver transplantation. Pharmacologic treatment with nitisinone, a peroral inhibitor of the tyrosine catabolic pathway, offers an improved means of treatment for patients with HT-I. However, longer follow-up periods are needed to establish the role of this drug in ultimately protecting patients from end-stage organ involvement and hepatocellular carcinoma. Experimental work in mice has provided some promise for the future management of tyrosinemia with gene therapy. © 2006 Adis Data Information BV. All rights reserved.

引用

页码：47 / 54

页数：7

共 69 条

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