Overview
Ribose-5-phosphate isomerase deficiency (also called RPI deficiency) is an extremely rare inherited metabolic disorder. It affects how the body processes certain sugars inside cells, specifically in a pathway called the pentose phosphate pathway. When the enzyme ribose-5-phosphate isomerase does not work properly, certain sugar molecules build up in the brain and nervous system, causing damage over time. The condition mainly affects the brain and spinal cord. The most noticeable effects include a slow loss of skills, problems with movement and coordination, and changes visible on brain scans. White matter in the brain — the tissue that helps nerve signals travel — is particularly affected. This is why RPI deficiency is sometimes grouped with a family of conditions called leukoencephalopathies, which are diseases that damage white matter. Because so few people have been diagnosed worldwide, treatment options are very limited and mostly focus on managing symptoms. There is currently no cure. Researchers are still learning about this disease, and each new case helps improve understanding of how to care for people living with it.
Key symptoms:
Slow loss of previously learned skills (developmental regression)Difficulty with balance and coordination (ataxia)Muscle stiffness or spasticityIntellectual disability or learning difficultiesSeizuresSlow or slurred speechVision problemsWhite matter damage visible on brain MRIFatigue and low energyDifficulty walking
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for Ribose-5-P isomerase deficiency.
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Specialists
View all specialists →No specialists are currently listed for Ribose-5-P isomerase 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 Ribose-5-P isomerase deficiency.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
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 tests do you recommend to confirm the diagnosis and monitor disease progression?,Are there any clinical trials or research studies we could participate in?,What therapies are most important to start right away to protect my child's function?,How quickly do you expect the disease to progress, based on what you know?,Should other family members be tested for the RPIA gene mutation?,Are there any dietary changes or supplements that might help?,What emergency plan should we have in place for seizures or sudden worsening?
Common questions about Ribose-5-P isomerase deficiency
What is Ribose-5-P isomerase deficiency?
Ribose-5-phosphate isomerase deficiency (also called RPI deficiency) is an extremely rare inherited metabolic disorder. It affects how the body processes certain sugars inside cells, specifically in a pathway called the pentose phosphate pathway. When the enzyme ribose-5-phosphate isomerase does not work properly, certain sugar molecules build up in the brain and nervous system, causing damage over time. The condition mainly affects the brain and spinal cord. The most noticeable effects include a slow loss of skills, problems with movement and coordination, and changes visible on brain scans.
How is Ribose-5-P isomerase deficiency inherited?
Ribose-5-P isomerase deficiency follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Ribose-5-P isomerase deficiency typically begin?
Typical onset of Ribose-5-P isomerase deficiency is childhood. Age of onset can vary across affected individuals.