Living with Tyrosinemia type II
A genetic condition that raises tyrosine in the blood and can affect the eyes, skin, and learning.
Understanding Tyrosinemia type II
Symptoms often begin in early childhood. About 50 percent of people have an intellectual disability. It is caused by too little of the enzyme tyrosine aminotransferase.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Cloudy cornea (corneal opacity)
- Strong sensitivity to light (photophobia)
- Eye pain, redness, and tearing
- Thick skin on the palms and soles
- Intellectual disability
- Quick eye movements (nystagmus)
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, eye disease specialists, genetic specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in TAT are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- 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 Children's Skin Disease Foundation
- 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 TAT gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: deficiency of tyrosine aminotransferase; hereditary hypertyrosinemia, type ii; hypertyrosinemia, oregon type; hypertyrosinemia, richner-hanhart type; keratosis palmoplantaris with corneal dystrophy; keratosis palmoplantaris-corneal dystrophy syndrome
Patient organizations
- Children's Skin Disease FoundationSkin diseases · United States
Broader rare-disease groups
- 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 type II.
Explore research for Tyrosinemia type II
Explore actively recruiting Tyrosinemia type II studies with HealthSpark.
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- 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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