Overview
Peroxisomal disease with epilepsy is an extremely rare metabolic condition that affects the body's peroxisomes — tiny structures inside cells that help break down fatty acids and produce certain essential fats needed for brain and nerve function. When peroxisomes do not work properly, harmful substances can build up in the body while important compounds are not made in sufficient amounts. This leads to damage in the brain and nervous system, which can cause seizures (epilepsy) as a prominent feature of the disease. Patients with this condition typically experience recurrent seizures that may be difficult to control with standard medications. Other symptoms can include developmental delays, problems with muscle tone, vision and hearing difficulties, and progressive neurological decline. The severity can vary, but the combination of peroxisomal dysfunction and epilepsy often leads to significant challenges in daily life. There is currently no cure for peroxisomal disease with epilepsy. Treatment focuses on managing seizures with anti-epileptic medications, providing supportive therapies such as physical therapy and occupational therapy, and addressing nutritional needs. A team of specialists including neurologists, metabolic disease experts, and geneticists typically work together to provide the best possible care. Research into peroxisomal disorders is ongoing, and families are encouraged to connect with rare disease organizations for support and information about emerging therapies.
Key symptoms:
Seizures or epilepsyDevelopmental delayIntellectual disabilityLow muscle tone (floppiness)Vision problemsHearing lossDifficulty with coordination and balanceFeeding difficultiesFailure to thrive or poor growthLiver problemsLoss of previously learned skillsAbnormal movementsDifficulty walking
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
4 availableApokyn
For the acute, intermittent treatment of hypomobility, "off" episodes ("end-of-dose-wearing-off" and unpredictable "on/off" episodes) associated with advanced Parkinson's disease
Gocovri
As adjunctive treatment to levodopa/carbidopa in patients with Parkinson's disease experiencing "off" episodes
Felbamate
monotherapy or adjunctive therapy in the treatment of partial seizures, with and without generalization, in adults with epilepsy
Remicade
reducing the number of draining enterocutaneous and rectovaginal fistulas and maintaining fistula closure in adult patients with fistulizing disease
Clinical Trials
View all trials with filters →No actively recruiting trials found for Peroxisomal disease with epilepsy at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Peroxisomal disease with epilepsy.
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 Peroxisomal disease with epilepsy.
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 specific type of peroxisomal disorder does my child have, and what gene is affected?,What seizure medications are best suited for this condition, and what side effects should I watch for?,Are there any dietary supplements or special diets that could help?,How often should we have follow-up appointments and what tests should be done regularly?,Are there any clinical trials or emerging treatments we should know about?,What therapies (physical, occupational, speech) do you recommend, and how often?,What is the expected course of this disease, and how can we plan for the future?
Common questions about Peroxisomal disease with epilepsy
What is Peroxisomal disease with epilepsy?
Peroxisomal disease with epilepsy is an extremely rare metabolic condition that affects the body's peroxisomes — tiny structures inside cells that help break down fatty acids and produce certain essential fats needed for brain and nerve function. When peroxisomes do not work properly, harmful substances can build up in the body while important compounds are not made in sufficient amounts. This leads to damage in the brain and nervous system, which can cause seizures (epilepsy) as a prominent feature of the disease. Patients with this condition typically experience recurrent seizures that may
How is Peroxisomal disease with epilepsy inherited?
Peroxisomal disease with epilepsy follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
What treatment and support options exist for Peroxisomal disease with epilepsy?
3 patient support programs are currently tracked on UniteRare for Peroxisomal disease with epilepsy. See the treatments and support programs sections for copay assistance, eligibility, and contact details.