An autosomal recessive inherited metabolic disorder caused by mutations in the FAH, HPD, and TAT genes. It is characterized by deficiency of one of the enzymes that are involved in the metabolism of t...
Comprehensive, easy-to-understand information about this condition
How we create this content →Connect with organizations supporting the tyrosinemia community
Helpful links for rare disease information and support
Questions that may be helpful when speaking with your healthcare team
Connect with organizations supporting the tyrosinemia community
Helpful links for rare disease information and support
Questions that may be helpful when speaking with your healthcare team
Connect with organizations supporting the tyrosinemia community
Helpful links for rare disease information and support
Questions that may be helpful when speaking with your healthcare team
Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Feb 8, 2026
Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.
1 peer-reviewed source from PubMed
AI-Generated Content: This summary was generated using AI. Always consult with qualified healthcare providers for medical guidance.
Kisho delivers this disease record via API, including phenotypes (HPO), genes, orphan drug designations, screening status, and PAG mapping, with version history and governance.