Living with Peroxisome biogenesis disorder
A group of related inherited conditions (the Zellweger spectrum) affecting many parts of the body from infancy.
Understanding Peroxisome biogenesis disorder
The group includes Zellweger syndrome (the most severe form), neonatal adrenoleukodystrophy (an intermediate form), and infantile Refsum disease (the least severe form). Zellweger syndrome signs usually appear in the newborn period. The other forms may not show until late infancy or early childhood. Features can include low muscle tone, vision and hearing problems, liver problems, and developmental delay.
Signs & symptoms
Symptoms vary from person to person. GARD says they may include:
- Low muscle tone (hypotonia)
- Feeding problems
- Hearing loss
- Vision loss
- Seizures
- Liver problems
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, digestive system specialists, eye disease specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
United Leukodystrophy Foundation and The Foundation for Peripheral Neuropathy may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Digestive system specialists (gastroenterologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: United Leukodystrophy Foundation, The Foundation for Peripheral Neuropathy
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Global Foundation for Peroxisomal Disorders and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in at least 12 different genes cause this group of conditions. They are autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: pbd-zsd; pbd, zss; peroxisomal biogenesis disorders; peroxisomal biogenesis disorders, zellweger syndrome spectrum; peroxisome biogenesis disorder spectrum; peroxisome biogenesis disorder-zellweger spectrum disorder
Patient organizations
- Global Foundation for Peroxisomal DisordersPeroxisome biogenesis disorder · United States
- United Leukodystrophy FoundationLeukodystrophies · United States
- The Foundation for Peripheral NeuropathyPeripheral neuropathy · United States
- Neuropathy Action FoundationPeripheral neuropathy · United States
You are more than your diagnosis
Perspectives from people navigating life with Peroxisome biogenesis disorder.
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