Zellweger Spectrum Disorder (ZSD) shows a range of phenotypes depending on the severity of the genetic defect. The most severe forms present during the neonatal or infantile periods and are associated with early death. Less severe forms may present during childhood, adolescence or adulthood.

Pathogenesis: generalized loss of peroxisome function


Inheritance: usually autosomal recessive


Onset: adolescence or adulthood


Clinical features may include:

(1) vision loss with retinitis pigmentosa, cataract and/or glaucoma

(2) sensorineural hearing loss

(3) variable adrenal insufficiency

(4) peripheral neuropathy

(5) cerebellar ataxia

(6) leukoencephalopathy

(7) variable developmental delay with normal intelligence possible

(8) variable disability, with partial or complete dependence

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