Living with Tyrosinemia type III
A genetic condition that raises tyrosine in the blood and can cause seizures, learning problems, and episodes of poor balance.
Understanding Tyrosinemia type III
The enzyme is 4-hydroxyphenylpyruvate dioxygenase. Features include intellectual disability, seizures, and periodic loss of balance and coordination (intermittent ataxia). It is noticed in the newborn period or infancy.
Signs & symptoms
GARD lists few symptoms for this condition. The summary describes these features:
- Global developmental delay
- Intellectual disability
- Seizures
- Periodic loss of balance and coordination (intermittent ataxia)
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 genetic specialists.
- 3Consider genetic testing
Changes in HPD 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
- Genetic specialists (geneticists)
- 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
This condition is caused by changes in the HPD gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: 4-alpha hydroxyphenylpyruvate dioxygenase deficiency; 4-alpha hydroxyphenylpyruvic acid oxidase deficiency; 4-hydroxyphenylpyruvate dioxygenase deficiency; 4-hydroxyphenylpyruvate hydroxylase deficiency; 4-hydroxyphenylpyruvic acid oxidase deficiency; hpd-gene related tyrosinemia type iii
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 type III.
Explore research for Tyrosinemia type III
Explore actively recruiting Tyrosinemia type III studies with HealthSpark.
Find actively recruiting studies for Tyrosinemia type III 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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