This is a snippet from Dr. Christina L. Grant’s Metabolic Disorders lecture in MedStudy’s 2023-2024 Pediatrics Video Board Review. https://medstudy.com/products/pediatr...

What are Peroxisomes?
• Ubiquitous organelles in all cells
• Impermeable membrane to keep isolated functions
• Functions
– Fatty acid β-oxidation
• Catalyzes VLCFAs
• Bile acids
• Branched-chain fatty acids
• Eicosanoids
– Ether phospholipid biosynthesis
• Plasmalogens are important part of the brain
– Catalase: degradation of hydrogen peroxide
– Cholesterol synthesis steps

Peroxisomal Disorders — Zellweger Spectrum Disorders
• Do not make normal peroxisomes
– Absent/Reduced function of all enzymes
• Clinical findings
– Characteristic facies, large anterior fontanelle
– Hypotonia
– Cataracts, pigmented retinopathy
– Epiphyseal stippling (pinpoint calcifications)
– Liver function abnormalities, jaundice
• Zellweger spectrum disorders
– Continuum of disease severity
– Includes neonatal adrenoleukodystrophy (ALD) and infantile Refsum disease (IRD)

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