Overview
Disorder of peroxisomal alpha-, beta- and omega-oxidation is an extremely rare group of metabolic conditions that affect how the body breaks down certain fats and other substances. Peroxisomes are tiny structures inside cells that play a key role in processing very long-chain fatty acids, branched-chain fatty acids, and other lipid molecules through chemical reactions called alpha-oxidation, beta-oxidation, and omega-oxidation. When one or more of these pathways do not work properly, harmful fatty acids and their byproducts can build up in the body, damaging the brain, nerves, liver, and other organs. Symptoms can vary widely depending on which specific oxidation pathway is affected and how severely. Common problems may include developmental delays, poor muscle tone, seizures, vision and hearing loss, liver dysfunction, and failure to thrive in infancy or childhood. Some forms present in newborns with severe neurological problems, while milder forms may not become apparent until later in childhood. There is currently no cure for these disorders. Treatment is mainly supportive and focuses on managing symptoms, preventing complications, and improving quality of life. This may include dietary modifications to limit certain fats, physical and occupational therapy, seizure management, and regular monitoring by a team of specialists. Research into better treatments is ongoing, but options remain limited for most patients.
Key symptoms:
Developmental delays or intellectual disabilityPoor muscle tone (floppiness)SeizuresVision problems or vision lossHearing lossLiver problems or enlarged liverFailure to thrive or poor growthDifficulty feedingLoss of previously learned skillsNumbness or tingling in hands and feetProblems with balance and coordinationDistinctive facial features in some formsWeak reflexesBehavioral difficulties
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
1 eventDidronel: FDA approved
Treatment of hypercalcemia of malignancy inadequately managed by dietary modification and/or oral hydration.
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
1 availableDidronel
Clinical Trials
View all trials with filters →No actively recruiting trials found for Disorder of peroxisomal alpha-, beta- and omega-oxidation at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Disorder of peroxisomal alpha-, beta- and omega-oxidation.
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 peroxisomal alpha-, beta- and omega-oxidation.
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.Which specific type of peroxisomal oxidation disorder does my child have, and what gene is affected?,What is the expected course of this condition, and what symptoms should I watch for as it progresses?,Are there any dietary changes that could help manage this condition?,What therapies and specialists should be part of our care team?,Are there any clinical trials or experimental treatments available for this condition?,How often should we schedule follow-up testing for blood levels, liver function, vision, and hearing?,What should I do in case of a medical emergency related to this condition?
Common questions about Disorder of peroxisomal alpha-, beta- and omega-oxidation
What is Disorder of peroxisomal alpha-, beta- and omega-oxidation?
Disorder of peroxisomal alpha-, beta- and omega-oxidation is an extremely rare group of metabolic conditions that affect how the body breaks down certain fats and other substances. Peroxisomes are tiny structures inside cells that play a key role in processing very long-chain fatty acids, branched-chain fatty acids, and other lipid molecules through chemical reactions called alpha-oxidation, beta-oxidation, and omega-oxidation. When one or more of these pathways do not work properly, harmful fatty acids and their byproducts can build up in the body, damaging the brain, nerves, liver, and other
How is Disorder of peroxisomal alpha-, beta- and omega-oxidation inherited?
Disorder of peroxisomal alpha-, beta- and omega-oxidation follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
What treatment and support options exist for Disorder of peroxisomal alpha-, beta- and omega-oxidation?
1 patient support program are currently tracked on UniteRare for Disorder of peroxisomal alpha-, beta- and omega-oxidation. See the treatments and support programs sections for copay assistance, eligibility, and contact details.