Zellweger Syndrome








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Description of Diseases

It is extremely rare. It usually affects infants. Zellweger Syndrome kills at a very high rate. The Syndrome is closely related to (PBD) and PBD's are classified into two groups. Zellweger and Rhizomelic Chondrodysplasia spectrum. Some of the problems caused by the disease in infants are enlarged livers, high amounts of iron and copper in your blood, respiratory distress, gastrointestinal bleeding, liver failure, and a loss in vision. There is no cure for Zellweger Syndrome and the prognosis is not good. Infants usually do not live past 6 months. There is research being done by the National Institute of Neurological Disorders and Stroke.

Description of Molecular Basis

If having Zellweger Syndrome, the PXR1 gene is put together with the chromosome 12. These are small micro bodies that are found all over the body. This creates a disturbance of the enzymes to assist cellular lipid metabolism and metabolic oxidations. The fatty acids become very long. This causes structural damage of the cell membrane. Also, there are increased levels of leukotrienes. This causes precipitate an inflammatory process. One other thing that can be caused by the disease is reduced levels of the phospho lipid platelet. This causes defects of neuronal migration.

Work Cited

http://www.biomedcentral.com/1471-2431/4/5
http://www.ncbi.nlm.nih.gov/books/NBK22240/
http://www.ninds.nih.gov/disorders/zellweger/zellweger.htm