Overview
5-oxoprolinase deficiency (also called OPLAH deficiency or 5-oxoprolinuria type II) is a very rare inherited metabolic disorder. It affects the way the body breaks down a chemical called 5-oxoproline (also known as pyroglutamic acid), which is a normal part of a recycling process involving the antioxidant glutathione. When the enzyme 5-oxoprolinase does not work properly, 5-oxoproline builds up and spills into the urine, a finding called 5-oxoprolinuria. Interestingly, many people identified with this condition have had few or no obvious symptoms, which makes it one of the more puzzling rare metabolic diseases. Some individuals have been found to have kidney stones or urinary tract problems, and a small number have had other health issues, but it is not yet clear whether all of these are directly caused by the enzyme deficiency. Because so few cases have been reported worldwide, doctors are still learning about the full range of effects this condition can have. There is currently no specific approved treatment for 5-oxoprolinase deficiency. Management focuses on monitoring kidney health and treating any complications that arise, such as kidney stones. Genetic counseling is recommended for affected families. Because the condition is so rare and often appears mild, the long-term outlook for most people identified so far has been relatively good, though ongoing medical follow-up is advised.
Also known as:
Key symptoms:
High levels of 5-oxoproline in the urine (5-oxoprolinuria)Kidney stonesUrinary tract problemsPossible mild intellectual or developmental concerns in some casesOften no obvious symptoms at all (asymptomatic in many reported cases)
Clinical phenotype terms (19)— hover any for plain English
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
Treatments
No FDA-approved treatments are currently listed for 5-oxoprolinase deficiency.
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Specialists
View all specialists →No specialists are currently listed for 5-oxoprolinase deficiency.
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 5-oxoprolinase deficiency.
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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.What symptoms should I watch for that might mean my condition is getting worse?,How often should I have my kidneys and urine checked?,Are there dietary changes I should make to protect my kidneys or reduce the risk of kidney stones?,Should other family members be tested for this condition?,Are there any clinical trials or research studies I could participate in?,What is the chance that my children could inherit this condition?,Are there any specialists or centers with experience in this specific condition that you would recommend?
Common questions about 5-oxoprolinase deficiency
What is 5-oxoprolinase deficiency?
5-oxoprolinase deficiency (also called OPLAH deficiency or 5-oxoprolinuria type II) is a very rare inherited metabolic disorder. It affects the way the body breaks down a chemical called 5-oxoproline (also known as pyroglutamic acid), which is a normal part of a recycling process involving the antioxidant glutathione. When the enzyme 5-oxoprolinase does not work properly, 5-oxoproline builds up and spills into the urine, a finding called 5-oxoprolinuria. Interestingly, many people identified with this condition have had few or no obvious symptoms, which makes it one of the more puzzling rare
How is 5-oxoprolinase deficiency inherited?
5-oxoprolinase deficiency follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.