DISEASE SCANNER

Global Incurable Diseases Tracker

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Metabolic Disorder

Tyrosinemia

HIGH SEVERITY

A group of hereditary disorders affecting tyrosine metabolism. Type I most severe, caused by fumarylacetoacetate hydrolase deficiency. Causes liver failure, renal dysfunction, and neurologic crises. Types II and III less severe with mainly skin/eye or developmental symptoms.

Global Affected

60.0K

Countries

20

Symptoms

Hepatomegaly
Liver failure
Renal dysfunction
Rickets
Neurologic crises
Cardiomyopathy
Skin lesions (Type II)
Corneal ulcers (Type II)

Treatment Options

NTBC (nitisinone)
Tyrosine/phenylalanine-restricted diet
Liver transplantation
Nutritional support
Renal replacement therapy
Treatment of complications

Risk Factors

1Autosomal recessive inheritance
2FAH gene (Type I)
3TAT gene (Type II)
4HPD gene (Type III)
5French-Canadian/Scandinavian ancestry

Diagnostic Methods

  • 1Newborn screening
  • 2Plasma succinylacetone
  • 3Urinary succinylacetone
  • 4Genetic testing
  • 5Liver biopsy
  • 6Plasma amino acids

Prognosis

Dramatically improved with NTBC; 90% survival without transplant. Without treatment, Type I fatal in childhood. Types II/III have better prognosis.

Prevention

  • Newborn screening
  • Genetic counseling
  • Prenatal diagnosis
  • Dietary management
  • Family screening

Research Status

NTBC (nitisinone) and Tyrosine/phenylalanine-restricted diet are primary treatments. Research focuses on improved therapies and outcomes.

Affected Countries

United StatesUnited KingdomCanadaAustraliaGermanyFranceItalySpainJapanBrazilMexicoNigeriaSouth AfricaIndiaChinaQatarSaudi ArabiaNorwaySwedenFinland

Sources

  • https://rarediseases.org/rare-diseases/tyrosinemia
  • https://www.nichd.nih.gov/health/topics/tyrosinemia
  • https://www.ncbi.nlm.nih.gov/books/NBK1515

Medical Disclaimer

This information is for educational purposes only. Always consult healthcare professionals for medical advice, diagnosis, and treatment.