DISEASE SCANNER
Global Incurable Diseases Tracker
Zellweger Syndrome
The most severe peroxisome biogenesis disorder (PBD), caused by mutations in PEX genes. Peroxisomes fail to form, affecting multiple metabolic pathways. Causes severe neurological abnormalities, liver dysfunction, and characteristic facial features.
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Symptoms
Treatment Options
Risk Factors
Diagnostic Methods
- 1Genetic testing
- 2Clinical evaluation
- 3Family history assessment
- 4Specialized laboratory tests
- 5Imaging studies
- 6Biopsy (if applicable)
Prognosis
Very poor. Classic form: death typically within 6-12 months of age. Severe hypotonia, characteristic facial features, liver dysfunction, seizures. No curative treatment available. Supportive care focuses on comfort. Clinical trials of DHA supplementation ongoing but not curative. Genetic counseling for recurrence risk (25%). Prenatal diagnosis available via biochemical or molecular testing. Family support and palliative care essential. Milder variants (NALD, IRD) have longer survival with significant disability.
Prevention
- Genetic counseling
- Carrier screening
- Prenatal diagnosis
- Preimplantation genetic diagnosis
- Family planning
Research Status
No cure. Supportive care only. Most infants die within first year. Research on peroxisome function and potential therapies ongoing. Genetic counseling for families.
Affected Countries
Sources
- https://www.ncbi.nlm.nih.gov/books/NBK1116
- https://medlineplus.gov/genetics
- https://rarediseases.org
Medical Disclaimer
This information is for educational purposes only. Always consult healthcare professionals for medical advice, diagnosis, and treatment.