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| Disease found: | Zellweger Spectrum Disorders |
| Current as of: | October 8, 2024 |
| Disease Overview: | Genetic disorders involving PEX genes, affecting peroxisome biogenesis; causes neurological, liver, and kidney dysfunction, with variable severity and autosomal recessive inheritance; prevalence 1 in 50,000 to 75,000. [more info] |
| Signs and Symptoms: | Neurological deficits, muscle hypotonia, hearing/vision loss, liver dysfunction, kidney abnormalities, craniofacial features, developmental delays, seizures, intellectual disability, eye abnormalities, liver enlargement, jaundice, gastrointestinal bleeding, skeletal abnormalities, cardiac defects, respiratory issues. |
| Diagnosis: | Genetic testing (PEX gene mutations), clinical evaluation, imaging studies, blood tests, newborn screening. |
| Treatment: | Specific treatments: physical therapy, occupational therapy, hearing aids, vision aids, gastrostomy (feeding tube), liver transplant, Cholbam (cholic acid therapy), ACTH (adrenocorticotropic hormone), Cortef (hydrocortisone for adrenal insufficiency) |
| Clinical Management: | Specific markers to monitor: liver enzymes, plasma very long-chain fatty acids (VLCFAs), electrolyte levels, hearing and vision assessments, adrenal function. |
| Referral: | Zellweger Spectrum Disorder Alliance. Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health. |
| Clinical Trials: | Many clinical trials are currently recruiting |