Amino Acid DisordersNewborn ScreeningRUSP
Tyrosinemia Type I
TYR-I
Tyrosinemia type I is caused by fumarylacetoacetate hydrolase deficiency and can lead to liver failure, renal Fanconi syndrome, and neurologic crises if untreated. Nitisinone combined with dietary tyrosine and phenylalanine restriction has transformed prognosis when started early. Newborn screening identifies infants for treatment before hepatocellular damage advances.
- Prevalence
- 1 in 100,000
- Inheritance
- Autosomal recessive
- Screened at Birth
- Yes
- On RUSP
- Yes (Recommended Uniform Screening Panel)
About This Data
This disorder is part of the Cureledger rare disease data corpus. We are building privacy-preserving natural history datasets and advocacy tools for rare disease communities. Data is maintained by clinical advisors and the patient community.