About Tyrosinemia Type 1
Tyrosinemia type 1 is the most severe form of tyrosinemia, caused by deficiency of fumarylacetoacetase (FAH), the final enzyme in the tyrosine degradation pathway. Accumulation of toxic metabolites, particularly succinylacetone, causes progressive liver failure, renal tubular dysfunction (Fanconi syndrome), and a high risk of hepatocellular carcinoma. Nitisinone (NTBC/Orfadin), which blocks an upstream step in the pathway, has dramatically improved outcomes and is now standard of care.
Common Clinical Features
Clinical Trial Eligibility Tips
What to know before applying to Tyrosinemia Type 1 trials.
Nitisinone (NTBC) treatment is near-universal — trials may study dose optimization, gene therapy, or nitisinone alternatives
Alpha-fetoprotein (AFP) level is a critical biomarker and tumor surveillance marker required at baseline
Succinylacetone in urine or blood is the diagnostic gold standard and an eligibility confirmation marker
Liver transplantation cures the hepatic phenotype — transplanted patients are typically ineligible for hepatic gene therapy trials
Patient Resources
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