Current strategies for the treatment of hereditary tyrosinemia type I

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...

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Bibliographic Details
Published in:Paediatric drugs 2006, Vol.8 (1), p.47-54
Main Authors: Ashorn, Merja, Pitkänen, Sari, Salo, Matti K, Heikinheimo, Markku
Format: Article
Language:English
Subjects:
Child, Preschool
Humans
Infant
Infant, Newborn
Liver Neoplasms - etiology
Liver Neoplasms - prevention & control
Liver Transplantation
Tyrosinemias - complications
Tyrosinemias - genetics
Tyrosinemias - therapy
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Summary: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.
ISSN:1174-5878
DOI:10.2165/00148581-200608010-00004