Tyrosinemia Medication

Updated: Jun 02, 2021
  • Author: Karl S Roth, MD; Chief Editor: Luis O Rohena, MD, PhD, FAAP, FACMG  more...
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Medication Summary

In addition to dietary treatment, appropriate medical therapy involves the use of 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC), a highly potent inhibitor of the enzyme 4-hydroxyphenylpyruvate dioxygenase.


Tyrosine Degradation Inhibitor

Class Summary

The clinical manifestations of tyrosinemia stem from the cytotoxicity of tyrosine metabolites accumulating proximal to the metabolic defect. Nitisinone acts on tyrosine metabolism upstream of the defect to prevent the production of these metabolites.

Nitisinone (Nityr, Orfadin)

Adjunct to dietary restrictions to treat hereditary tyrosinemia type-1. Highly potent reversible inhibitor of 4-hydroxyphenylpyruvate dioxygenase. Prevents formation of catabolic intermediates from tyrosine (ie, maleylacetoacetate, fumarylacetoacetate) that are converted to toxic metabolites (ie, succinylacetone, succinyl acetoacetate) and that are responsible for observed liver and kidney toxicity.