Living with Tyrosinemia
A genetic condition in which the body can't break down the amino acid tyrosine, with three types that affect the liver, eyes, skin, or brain.
Understanding Tyrosinemia
If it is untreated, tyrosine and its byproducts build up in tissues and organs. There are three types. Type I is the most severe and usually begins in the first few months of life, with poor weight gain, vomiting, diarrhea, jaundice, a cabbage-like odor, and easy bleeding. It can affect the liver, kidneys, and bones. Type II often begins in early childhood and affects the eyes, skin, and mental development. GARD says early diagnosis and treatment matter.
Signs & symptoms
Symptoms vary by type. GARD describes these features:
- Poor weight gain and growth (type I)
- Vomiting and diarrhea (type I)
- Yellow skin and eyes (jaundice) (type I)
- Easy bleeding, such as nosebleeds (type I)
- Eye pain, redness, and light sensitivity (type II)
- Thick, painful skin on palms and soles (type II)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in genes (variants) cause this condition. The three types have different genetic causes, which GARD doesn't name in this record.
Also known as: hereditary hypertyrosinemia; hereditary tyrosinemia; tyrosinemia-tyrosiluria hereditary syndrome
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Tyrosinemia.
Explore research for Tyrosinemia
Explore actively recruiting Tyrosinemia studies with HealthSpark.
Find actively recruiting studies for Tyrosinemia with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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