Which medications in the drug class Tyrosine Degradation Inhibitor are used in the treatment of Fanconi Syndrome?

Updated: Feb 09, 2018
  • Author: Sahar Fathallah-Shaykh, MD; Chief Editor: Craig B Langman, MD  more...
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Answer

Tyrosine Degradation Inhibitor

In addition to dietary treatment, some advise the use of NTBC, which is a highly potent inhibitor of the enzyme 4-hydroxyphenylpyruvate dioxygenase. NTBC prevents formation of fumarylacetoacetate from tyrosine. Results from an international study initiated in 1992 resulted in US Food and Drug Administration (FDA) approval in January 2002.

An open-label study of 207 patients (aged from birth to 21.7 y, median age 9 mo) revealed an improved overall survival rate compared with historical control subjects (29% vs 88% survival probabilities at 4 y) when patients who were younger than 2 months presented with hereditary tyrosinemia type I and were treated with nitisinone and dietary restriction. [24]

Nitisinone (Orfadin)

Used adjunctively to dietary restrictions to treat hereditary tyrosinemia type-1. Highly potent reversible inhibitor of the enzyme 4-hydroxyphenylpyruvate dioxygenase. Prevents formation of fumarylacetoacetate from tyrosine.


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