Living with Cystathioninuria
A rare inherited metabolic condition in which a substance called cystathionine builds up and is passed in urine.
Understanding Cystathioninuria
It happens because of a missing enzyme (cystathionine gamma-lyase). GARD describes the condition as benign, meaning it is not considered medically harmful. Some people have been reported with seizures or intellectual disability, but these may not be linked to the condition itself.
Signs & symptoms
Symptoms vary. GARD lists these as the most common:
- Intellectual disability
- Seizures
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 CTH 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
Changes in the CTH gene cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: cth - cystathioninuria; cystathionase deficiency; cystathione gamma-lyase deficiency syndrome; cystathionine gamma-lyase deficiency syndrome; cystathioninuria (disease); gamma-cystathionase deficiency
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 Cystathioninuria.
Explore research for Cystathioninuria
Explore actively recruiting Cystathioninuria studies with HealthSpark.
Find actively recruiting studies for Cystathioninuria 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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