Living with Hyperprolinemia type 2
An inherited condition with high proline in the blood, and for some people seizures or mild intellectual disability.
Understanding Hyperprolinemia type 2
Proline is 10 to 15 times higher than normal, and a related compound called pyrroline-5-carboxylate is also high. Some people develop mild intellectual disability and seizures. Severity varies. It can appear at any time in life.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Seizures
- Intellectual disability
- Global developmental delay
- Delayed speech and language
- Sleep problems
- Unsteady walking
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, genetic specialists and seizure and epilepsy specialists.
- 3Consider genetic testing
Changes in ALDH4A1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Seizure and epilepsy specialists (epileptologist)
- Expert care
- Expert lists: Epilepsy Foundation
- 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 Epilepsy 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
Changes in the ALDH4A1 gene cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: 1-pyrroline-5-carboxylate dehydrogenase activity disease; 1-pyrroline-5-carboxylate dehydrogenase deficiency; aldh4a1 hyperprolinemia; deficiency of pyrroline-5-carboxylate reductase; delta-1-pyrroline-5-carboxylate dehydrogenase deficiency; delta'-pyrroline-5-carboxylate dehydrogenase deficiency
Patient organizations
- Epilepsy FoundationEpilepsy · 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 Hyperprolinemia type 2.
Explore research for Hyperprolinemia type 2
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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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