Overview
Peroxisome biogenesis disorder (PBD) is a group of rare inherited conditions where the body cannot properly build or maintain tiny structures inside cells called peroxisomes. Peroxisomes act like the cell's cleaning crew — they break down harmful substances and help produce important fats needed for the brain and nervous system. When peroxisomes do not work correctly, toxic substances build up and essential fats are missing, causing damage to many organs, especially the brain, eyes, ears, liver, and skeleton. The most well-known form is Zellweger syndrome, which is the most severe. Other forms include neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD). Together these are sometimes called the Zellweger spectrum disorders (ZSD). Symptoms can range from very severe — with profound brain problems present at birth — to milder forms where children survive into adulthood with varying levels of disability. Common symptoms include weak muscle tone (floppiness) in newborns, seizures, vision and hearing loss, liver disease, and developmental delays. There is currently no cure, but supportive care can help manage symptoms and improve quality of life. Research into targeted therapies is ongoing, giving families reason for cautious hope.
Also known as:
Key symptoms:
Very low muscle tone (floppy baby) at birthSeizures or epilepsyVision problems or blindnessHearing lossLiver disease or liver enlargementDevelopmental delays or intellectual disabilityFeeding difficulties in infancyDistinctive facial features (high forehead, wide-set eyes, flat nose bridge)Bone abnormalities or calcium deposits in bonesAdrenal gland problems (adrenal insufficiency)Poor growth and failure to thriveBalance and coordination problemsAbnormal brain structure seen on imaging
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
1 availableCholbam
Adjunctive treatment of peroxisomal disorders (PDs) including Zellweger spectrum disorders in patients who exhibit manifestations of liver disease, steatorrhea or complications from decreased fat-solu…
Adjunctive treatment of peroxisomal disorders (PDs) including Zellweger spectrum disorders in patients who exhibit manifestations of liver disease, steatorrhea or complications from decreased fat-soluble vitamin absorption
Clinical Trials
View all trials with filters →No actively recruiting trials found for Peroxisome biogenesis disorder at this time.
New trials open frequently. Follow this disease to get notified.
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 Peroxisome biogenesis disorder.
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 gene is affected in my child, and what does that mean for how severe the condition will be?,What supplements or medications should my child start right away, and what are the risks if we miss doses?,Does my child need adrenal hormone replacement, and do we need an emergency injection kit at home?,What specialists should be part of my child's care team, and how often should we see each one?,Are there any clinical trials or research studies that my child might be eligible for?,What signs should prompt me to go to the emergency room immediately?,What are the chances that future children could be affected, and should other family members be tested?
Common questions about Peroxisome biogenesis disorder
What is Peroxisome biogenesis disorder?
Peroxisome biogenesis disorder (PBD) is a group of rare inherited conditions where the body cannot properly build or maintain tiny structures inside cells called peroxisomes. Peroxisomes act like the cell's cleaning crew — they break down harmful substances and help produce important fats needed for the brain and nervous system. When peroxisomes do not work correctly, toxic substances build up and essential fats are missing, causing damage to many organs, especially the brain, eyes, ears, liver, and skeleton. The most well-known form is Zellweger syndrome, which is the most severe. Other form
How is Peroxisome biogenesis disorder inherited?
Peroxisome biogenesis disorder follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
Which specialists treat Peroxisome biogenesis disorder?
4 specialists and care centers treating Peroxisome biogenesis disorder are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.
What treatment and support options exist for Peroxisome biogenesis disorder?
1 patient support program are currently tracked on UniteRare for Peroxisome biogenesis disorder. See the treatments and support programs sections for copay assistance, eligibility, and contact details.