Overview
Disorder of proline metabolism is a group of rare inherited metabolic conditions in which the body has trouble processing the amino acid proline. Proline is a building block of proteins that plays an important role in forming connective tissues like skin, cartilage, and bone. When the enzymes responsible for breaking down proline do not work properly, proline or related substances can build up in the blood and urine. The two main types are hyperprolinemia type I (caused by problems with the enzyme proline oxidase) and hyperprolinemia type II (caused by problems with the enzyme pyrroline-5-carboxylate dehydrogenase). Type II is generally considered more clinically significant than type I. Many people with hyperprolinemia type I have no symptoms at all and are discovered only through newborn screening or family testing. When symptoms do occur, they may include seizures, intellectual disability, and behavioral or learning difficulties. Hyperprolinemia type II is more likely to cause seizures and intellectual disability. Some patients may also experience kidney problems or hearing loss. There is currently no cure for these conditions. Treatment focuses on managing symptoms, such as controlling seizures with medication, and in some cases dietary management to reduce proline intake. Supportive therapies like speech therapy, occupational therapy, and special education services can help affected individuals reach their full potential. Regular follow-up with a metabolic specialist is important for monitoring and adjusting care over time.
Key symptoms:
Seizures or convulsionsIntellectual disabilityLearning difficultiesBehavioral problemsSpeech delaysDevelopmental delaysHigh levels of proline in the bloodProline in the urineHearing loss in some casesKidney problems in some casesShort stature in some casesJoint hypermobility or loose joints
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Variable
Can begin at different ages, from infancy through adulthood
FDA & Trial Timeline
3 eventsBin Lu — PHASE4
The Affiliated Nanjing Drum Tower Hospital of Nanjing University Medical School
Peking University First Hospital — PHASE4
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Disorder of proline metabolism.
View clinical trials →Clinical Trials
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Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Disorder of proline metabolism.
Community
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Start the conversation →Latest news about Disorder of proline metabolism
Disease timeline:
New recruiting trial: Multicenter, Prospective, Observational Study on the Treatment of Type 2 Diabetes With Proline Plus Empagliflozin Tablets
A new clinical trial is recruiting patients for Disorder of proline metabolism
Caregiver Resources
NORD Caregiver Resources
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Mental Health Support
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.Which type of hyperprolinemia does my child have, and what does that mean for their health?,Should we follow a special diet to reduce proline intake, and how effective is that?,What seizure medications are recommended, and what are the possible side effects?,How often should blood proline levels be checked?,What developmental therapies would benefit my child the most?,Are there any clinical trials or new treatments being studied for this condition?,Should other family members be tested for this condition?
Common questions about Disorder of proline metabolism
What is Disorder of proline metabolism?
Disorder of proline metabolism is a group of rare inherited metabolic conditions in which the body has trouble processing the amino acid proline. Proline is a building block of proteins that plays an important role in forming connective tissues like skin, cartilage, and bone. When the enzymes responsible for breaking down proline do not work properly, proline or related substances can build up in the blood and urine. The two main types are hyperprolinemia type I (caused by problems with the enzyme proline oxidase) and hyperprolinemia type II (caused by problems with the enzyme pyrroline-5-carb
How is Disorder of proline metabolism inherited?
Disorder of proline metabolism follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
Which specialists treat Disorder of proline metabolism?
1 specialists and care centers treating Disorder of proline metabolism are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.