Living with Tyrosinemia type I
A genetic condition in which an enzyme shortage lets tyrosine build up, affecting the liver, kidneys, bones, and nerves from infancy.
Understanding Tyrosinemia type I
Symptoms usually appear in the first few months of life. The condition can lead to liver and kidney problems, softening and weakening of the bones, nervous system problems, and a higher chance of liver cancer. It can be noticed at any time in life.
Signs & symptoms
Symptoms vary from person to person. GARD describes these features:
- Poor weight gain and growth (failure to thrive)
- Diarrhea and vomiting
- Yellow skin and eyes (jaundice)
- Cabbage-like odor
- Easy bleeding, especially nosebleeds
- Enlarged liver
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
Specialists who may be involved include brain and nervous system specialists, cancer specialists, digestive system specialists and genetic specialists.
- 3Consider genetic testing
Changes in FAH are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
The Foundation for Peripheral Neuropathy may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Cancer specialists (oncologists); Digestive system specialists (gastroenterologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: The Foundation for Peripheral Neuropathy
- 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 flok and other patient organizations
- 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
This condition is caused by changes in the FAH gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: deficiency of beta-diketonase; deficiency of fumarylacetoacetase; fah deficiency; fah-gene related tyrosinemia type 1; fumarylacetoacetase deficiency; fumarylacetoacetate hydrolase deficiency
Patient organizations
- flokTyrosinemia type I · United States
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
- The Foundation for Peripheral NeuropathyPeripheral neuropathy · United States
- Neuropathy Action FoundationPeripheral neuropathy · United States
You are more than your diagnosis
Perspectives from people navigating life with Tyrosinemia type I.
Explore research for Tyrosinemia type I
Explore actively recruiting Tyrosinemia type I studies with HealthSpark.
Find actively recruiting studies for Tyrosinemia type I with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
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- 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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