Living with Hyperprolinemia
Too much of the amino acid proline in the blood, which often causes no symptoms.
Understanding Hyperprolinemia
There are two forms. In type I, proline is 3 to 10 times higher than normal and people often have no symptoms. Some have seizures, intellectual disability, or other nerve or mental health problems. Type II, with proline 10 to 15 times higher than normal, is more likely to involve seizures or intellectual disability. It can also occur with malnutrition, liver disease, or high lactic acid.
Signs & symptoms
Many people have no symptoms. When symptoms occur, GARD's summary describes:
- Seizures
- Intellectual disability
- Other nervous system problems
- Mental health 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.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- 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
It generally occurs when proline is not broken down properly. It can also occur with malnutrition, liver disease, or conditions that raise lactic acid in the blood.
Also known as: proline hydrogenase deficiency; prolinemia
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 Hyperprolinemia.
Explore research for Hyperprolinemia
Explore actively recruiting Hyperprolinemia studies with HealthSpark.
Find actively recruiting studies for Hyperprolinemia 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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