Genetic Disorder

Zellweger Syndrome

Zellweger syndrome is a severe peroxisome biogenesis disorder present from birth, affecting multiple organs including brain, liver, and kidneys.

5

Symptoms

3

Causes

4

Treatments

3

Prevention

Condition Overview

Understand key symptoms, causes, diagnosis options, and treatment pathways for Zellweger Syndrome. This overview is intended for patient awareness and should be followed by specialist consultation.

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Symptoms

  • Hypotonia (poor muscle tone) in newborns
  • Feeding difficulties and poor growth
  • Developmental delay and seizures
  • Vision and hearing impairment
  • Liver dysfunction

Causes

  • Inherited mutations in PEX genes
  • Autosomal recessive inheritance
  • Defective peroxisome formation

Diagnosis

  • Clinical neonatal assessment
  • Metabolic and biochemical testing
  • Genetic testing for PEX mutations
  • Imaging and organ function evaluation

Treatment

  • Supportive multidisciplinary care
  • Nutritional and feeding support
  • Seizure management
  • Monitoring and treatment of organ complications

Risk Factors

  • Family history of peroxisomal disorders
  • Consanguineous parentage in some families

Prevention

  • Genetic counseling for carriers
  • Prenatal diagnosis in high-risk pregnancies
  • Early supportive care planning after diagnosis

Prevalence

Rare inherited disorder within the Zellweger spectrum.

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