What causes the Zellweger spectrum of diseases?
As we mentioned, disorders of the Zellweger spectrum are caused by defects in the assembly of the peroxisome. There are at least 12 genes required for proper assembly of the peroxisome. Defects in any of these 12 genes result in disorders of the Zellweger Spectrum. This peroxisome is one of four special compartments within all human cells. These individual compartments are separated from the rest of the cell by a membrane (a “wall” made up of fats and proteins). The peroxisome performs a number of important jobs within the cell that are needed to break down certain types of fats, to produce hormones, and to help the nervous system work properly. In order for it to properly do its job, the peroxisome must be correctly assembled. If it is not, then it results in one of the diseases of the Zellweger spectrum. What are the clinical symptoms of the Zellweger spectrum of diseases? The disorders of the Zellweger spectrum are congenital (present at birth). Patients with Zellweger syndrome have
