Overview
Disorders of pentose and polyol metabolism are a group of rare inherited conditions where the body cannot properly process certain sugars called pentoses (like ribose and xylulose) and polyols (sugar alcohols like sorbitol and xylitol). These sugars are normally broken down through specific chemical pathways in the body. When the enzymes responsible for these steps are missing or not working correctly, these substances can build up to harmful levels in the blood, urine, and tissues. The most well-known condition in this group is essential pentosuria, where a sugar called L-xylulose appears in the urine. This condition is generally considered harmless. However, other disorders in this group — such as those involving sorbitol or ribitol metabolism — can cause more serious problems, including damage to the nervous system, muscles, eyes, and liver. Symptoms vary widely depending on which specific enzyme is affected. Treatment depends on the specific disorder. Some conditions require no treatment at all, while others may need dietary changes, vitamin supplementation, or management of complications. Research into this group of conditions is ongoing, and care is typically managed by a metabolic specialist.
Key symptoms:
Sugar or sugar alcohols appearing in the urineMuscle weakness or low muscle toneIntellectual disability or learning difficultiesVision problems or eye abnormalitiesLiver enlargement or liver problemsPoor growth or failure to thrive in infantsFatigue or low energyNerve damage causing numbness or weaknessSeizures in some formsAbnormal levels of certain sugars in the blood
Variable
Can be inherited in different ways depending on the underlying gene
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Disorders of pentose/polyol metabolism.
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Specialists
View all specialists →No specialists are currently listed for Disorders of pentose/polyol metabolism.
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 Disorders of pentose/polyol metabolism.
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Caregiver Resources
NORD Caregiver Resources
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Family & Caregiver Grants
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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 specific disorder within this group has my child or I been diagnosed with, and how serious is it?,Do I or my child need any dietary changes, and if so, what foods should be avoided?,What symptoms should prompt me to go to the emergency room?,Are there any other family members who should be tested for this condition?,What specialists should be part of our care team, and how often should we have check-ups?,Are there any clinical trials or new treatments being studied for this condition?,How will this condition affect my child's development, schooling, or long-term independence?
Common questions about Disorders of pentose/polyol metabolism
What is Disorders of pentose/polyol metabolism?
Disorders of pentose and polyol metabolism are a group of rare inherited conditions where the body cannot properly process certain sugars called pentoses (like ribose and xylulose) and polyols (sugar alcohols like sorbitol and xylitol). These sugars are normally broken down through specific chemical pathways in the body. When the enzymes responsible for these steps are missing or not working correctly, these substances can build up to harmful levels in the blood, urine, and tissues. The most well-known condition in this group is essential pentosuria, where a sugar called L-xylulose appears in