DISEASE SCANNER
Global Incurable Diseases Tracker
Tyrosinemia Type I
A severe autosomal recessive disorder of amino acid metabolism caused by deficiency of fumarylacetoacetate hydrolase (FAH). Leads to accumulation of toxic metabolites causing liver failure, kidney dysfunction, and neurologic crises. Untreated, fatal in childhood. Newborn screening allows early treatment.
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Symptoms
Treatment Options
Risk Factors
Diagnostic Methods
- 1Elevated succinylacetone in blood or urine
- 2Elevated tyrosine and alpha-fetoprotein
- 3FAH enzyme assay or genetic testing
- 4Liver biopsy (if needed)
- 5Newborn screening (succinylacetone)
- 6Prenatal diagnosis available
Prognosis
Without treatment: Death by age 2 from liver failure or HCC. With NTBC and diet: 90%+ survival; liver and kidney function preserved; neurologic crises prevented; HCC risk reduced but still requires surveillance. Quality of life good with treatment. Lifelong treatment required. Early diagnosis through newborn screening is critical for optimal outcomes.
Prevention
- Newborn screening
- Genetic counseling
- Carrier screening in high-risk populations
- Prenatal diagnosis
- Preimplantation genetic diagnosis
- Early initiation of NTBC
Research Status
NTBC (nitisinone) is a life-saving treatment that blocks toxic metabolite formation. Combined with dietary restriction of tyrosine and phenylalanine. Liver transplant reserved for acute liver failure or malignancy. Newborn screening has transformed outcomes.
Affected Countries
Sources
- https://www.ncbi.nlm.nih.gov/books/NBK1514
- https://www.mayoclinic.org/diseases-conditions/tyrosinemia
- https://rarediseases.org/rare-diseases/tyrosinemia-type-i
Medical Disclaimer
This information is for educational purposes only. Always consult healthcare professionals for medical advice, diagnosis, and treatment.