Pediatric Drugs

, Volume 8, Issue 1, pp 47–54 | Cite as

Current Strategies for the Treatment of Hereditary Tyrosinemia Type I

  • Merja Ashorn
  • Sari Pitkänen
  • Matti K. Salo
  • Markku Heikinheimo
Therapy In Practice


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.



This work was supported by the Finnish Pediatric Foundation and the Helsinki University Central Hospital and Tampere University Hospital research funds. The authors have no conflicts of interest that are directly relevant to the content of this review.


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Copyright information

© Adis Data Information BV 2006

Authors and Affiliations

  • Merja Ashorn
    • 1
  • Sari Pitkänen
    • 2
  • Matti K. Salo
    • 1
  • Markku Heikinheimo
    • 3
  1. 1.Paediatric Research CentreUniversity of TampereTampereFinland
  2. 2.Department of DermatologyUniversity of HelsinkiHelsinkiFinland
  3. 3.Children’s Hospital and Program for Reproductive and Developmental Biology, Biomedicum HelsinkiUniversity of HelsinkiHelsinkiFinland

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