Zellweger Syndrome is an inherited disease where the lack of proteins in peroxisomes leads to peroxisomal deficiency. This can be caused by a mutation in gene encoding peroxon Pex2 (related to protein import) which will lead to severe abnormalities in major organs (brain, liver & kidneys) and can result in death . It is the most severe of the 4 peroxisome biogenesis disorders (PBD) and there is no cure for it. Also. there are only limited treatments available as the metabolic and neurological pathways involved, are affected during fetal development .
- ↑ Alberts et al.,2008, Molecular biology of the cell, Fifth ed., Page 723, New York, Garland science
- ↑ http://www.ninds.nih.gov/disorders/zellweger/zellweger.htm