Zellweger Syndrome Spectrum

Zellweger Syndrome Spectrum (ZSS) encompasses a continuum of peroxisome biogenesis disorders ranging from severe (Zellweger syndrome) to intermediate (neonatal adrenoleukodystrophy) to mild (infantile Refsum disease). These conditions were once considered separate disorders but are now recognized as different severities of the same underlying problem: defective formation of functional peroxisomes, organelles essential for many metabolic processes.

Classic Zellweger syndrome, the severe end of the spectrum, presents at birth with profound hypotonia (floppy muscle tone), distinctive facial features, seizures, liver dysfunction, and vision and hearing impairments. Affected infants have characteristic "facies" including a high forehead, large fontanelles, and epicanthal folds. They typically do not survive beyond the first year of life due to respiratory compromise, infection, or progressive liver failure.

Individuals with intermediate and mild ZSS may survive into childhood or adulthood. They often have developmental delay, hearing loss, vision problems (retinopathy, cataracts), liver dysfunction, and adrenal insufficiency. Progressive leukodystrophy (white matter degeneration in the brain) may occur. Some individuals with mild disease have near-normal intelligence with learning differences.

ZSS is caused by mutations in one of approximately 13 PEX genes, with PEX1 mutations accounting for about 70% of cases. These genes encode peroxins, proteins required for peroxisome assembly. The condition is inherited in an autosomal recessive pattern. Without functional peroxisomes, cells cannot properly break down very long chain fatty acids, synthesize plasmalogens, or perform other essential functions. Diagnosis involves biochemical testing and genetic confirmation. Treatment is supportive, though some dietary and supplementation strategies may provide modest benefit.

NutraHacker examines the following gene related to Zellweger Syndrome Spectrum:

• PEX1

For more information about your own genetic profile as related to Zellweger Syndrome Spectrum, please check out our NutraHacker Carrier Status and Drug Response Report.

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