Zellweger Spectrum Disorder

Excerpt

Zellweger spectrum disorder, also known as cerebrohepatorenal syndrome, is a rare inherited disorder characterized by the absence/reduction of functional peroxisomes in cells, essential for beta-oxidation of very long-chain fatty acids. It is autosomal recessive in inheritance, and the spectrum of the disease includes Zellweger spectrum disorder, neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and rhizomelic chondrodysplasia punctata type 1 (RCDP1) depending on the phenotype and severity.