What causes Zellweger Syndrome?
As mentioned, Zellweger syndrome is caused by defects in the assembly of the peroxisome. There are a number of genes required for proper assembly of the peroxisome. Defects in one of these genes results in Zellweger Syndrome. 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. What are the clinical symptoms of the Zellweger Syndrome? Zellweger Sydnrome is congenital (present at birth). Patients with Zellweger syndrome have consistent clinical characteristics, listed below along with a clarification of the clinical terms as necessary. The exact number and combination of clin
