Living with Homocystinuria
An inherited condition in which the body can't process certain amino acids, affecting the eyes, bones, blood clotting, and learning.
Understanding Homocystinuria
The most common form, classic homocystinuria, is marked by tall height, nearsightedness, and a shifted eye lens. It also raises the risk of blood clots, and can cause brittle bones. Some people have developmental delay and learning problems. Less common forms can cause seizures, movement problems, and a blood condition called megaloblastic anemia. Signs usually begin in childhood, though mild cases may not show until adulthood.
Signs & symptoms
Symptoms vary from person to person. GARD's summary describes these:
- Tall height
- Nearsightedness (myopia)
- Shifted eye lens
- Blood clotting problems
- Brittle bones (osteoporosis)
- Developmental delay and learning problems
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.
- 4Connect with expert centers
HCU Network America may keep lists of experts for this condition.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- Expert care
- Expert lists: HCU Network America
- 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 HCU Network America
- 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 doesn't describe a cause for this condition yet, beyond the body being unable to process certain amino acids properly.
Also known as: high urine homocystine levels; homocystinuria (disease)
Patient organizations
- HCU Network AmericaHomocystinuria · United States
You are more than your diagnosis
Perspectives from people navigating life with Homocystinuria.
Explore research for Homocystinuria
Explore actively recruiting Homocystinuria studies with HealthSpark.
Find actively recruiting studies for Homocystinuria 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
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Homocystinuria studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Homocystinuria
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Homocystinuria experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.