Zellweger Syndrome rare, autosomal recessive genetic disorder, a defective peroxisomes cause metabolic dysfunction.
Blood and Urine Tests:
Very Long-Chain Fatty Acids (VLCFAs): Elevated levels of VLCFAs in plasma.
Phytanic Acid: Increased levels of phytanic acid.
Plasmalogens: Reduced levels of plasmalogens in red blood cells.
Bile Acid Intermediates: Accumulation of bile acid intermediates.
Imaging Studies
Brain MRI: To detect structural abnormalities.
Leukodystrophy: Abnormal white matter changes.
Cortical Dysplasia: Abnormal development of the brain cortex.
Neuronal Migration Defects: Irregularities in the migration of neurons during brain development.
Seizures.
Feeding Difficulties.
Hearing Loss.
High Forehead.
Jaundice.
Renal Cysts
Hypotonia.
Antiepileptic drugs to control seizures.
Speech therapy to assist with feeding difficulties and speech development.
Regular liver function tests to monitor for liver damage.
Vaccinations to prevent infections.