Zellweger syndrome

Zellweger syndrome is a severe inherited peroxisome biogenesis disorder caused by impaired peroxisome formation or function. It disrupts multiple organ systems and typically causes profound neurological impairment and early death.

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Peroxisome biogenesis disorder: An inherited disorder in which defects prevent peroxisomes from forming or functioning normally. Zellweger syndrome is the most severe presentation within this disorder spectrum.
Autosomal recessive inheritance: A pattern in which a disorder develops when both copies of a gene carry disease-causing variants. Zellweger syndrome usually occurs when a child inherits affected PEX gene copies from both parents.
Newborn screening: Testing performed soon after birth to identify conditions for which early intervention may help. Screening programs can detect selected peroxisomal biomarkers before symptoms are fully apparent.
Heimler syndrome: A mild peroxisome biogenesis disorder associated with hearing loss, retinal disease, and enamel abnormalities. It belongs to the same broad disorder spectrum but is much less severe than Zellweger syndrome.
Congenital hearing loss: Hearing impairment present at birth or arising in early infancy. Hearing impairment can accompany the multisystem effects of Zellweger syndrome.
PEX genes: Genes encoding proteins that build peroxisomes, import their proteins, or maintain their functions. Variants in multiple PEX genes can impair peroxisome assembly and cause Zellweger syndrome.
Peroxisomal disorders: A group of conditions caused by impaired peroxisome formation or peroxisomal metabolic functions. This broader group places Zellweger syndrome among disorders with overlapping cellular causes.
Plasma very-long-chain fatty acid test: A blood test measuring very-long-chain fatty acids to investigate suspected peroxisomal disorders. Elevated levels provide a key biochemical clue when Zellweger syndrome is suspected.
Infantile Refsum disease: A peroxisome biogenesis disorder with childhood onset and typically less severe presentation than classic Zellweger syndrome. It illustrates a milder phenotype within the same clinical spectrum.
Retinal dystrophy: Progressive degeneration of the light-sensitive retinal cells that can impair vision. Retinal disease contributes to visual impairment in affected children.