PEX genes AR unreviewed
Zellweger syndrome
Peroxisomal VLCFA oxidation
Enzyme or protein defect
Peroxisome biogenesis (peroxin) proteins
Accumulates or becomes deficient
Very-long-chain fatty acids
Key features
Hypotonia, seizures, craniofacial dysmorphism, hepatomegaly, early death
Management
Supportive
Not clinical guidance. Written from standard clinical biochemistry, not from the uploaded documents, and marked unreviewed. Teaching-level reference for study and database seeding only. It must not be used to manage a patient.
Recent literature
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