Definition
Zellweger syndrome is a lethal disease characterized by peroxisome dysfunction, severe neurological findings, and dysmorphic face.
Symptoms
- Severe hypotonia
- Characteristic face
- Liver dysfunction
- Convulsions
Reasons
PEX gene mutations.
Diagnosis
Plasma very long chain fatty acids, genetic testing.
Treatment
Palliative care.
Which Polyclinic Should You Apply To?
Metabolism Polyclinic
What to Do in an Emergency?
In case of respiratory failure, emergency services should be consulted.
This page is for general information purposes only.