Zellweger Spectrum Disorders

Not Verified
This information is AI generated and has not yet been reviewed by a specialist physician. AI can make mistakes

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.

Common symptoms

Neurological deficitsmuscle hypotoniahearing/vision lossliver dysfunctionkidney abnormalitiescraniofacial featuresdevelopmental delaysseizuresintellectual disabilityeye abnormalitiesliver enlargementjaundicegastrointestinal bleedingskeletal abnormalitiescardiac defectsrespiratory issues.

WHEN TO SUSPECT

  • Recommendation 1

    Genetic testing (PEX gene mutations), clinical evaluation, imaging studies, blood tests, newborn screening.

HOW TO TEST

  • Recommendation 1

    Genetic testing (PEX gene mutations), clinical evaluation, imaging studies, blood tests, newborn screening.

TREATMENT

  • Recommendation 1

    Specific treatments

  • Recommendation 2

    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)

PRIMARY CARE

  • Recommendation 1

    Specific markers to monitor

  • Recommendation 2

    liver enzymes, plasma very long-chain fatty acids (VLCFAs), electrolyte levels, hearing and vision assessments, adrenal function.

FURTHER SUPPORT

CLINICAL TRIALS

Sources

No data available

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