Zellweger syndrome or cerebrohepatorenal syndrome
Zellweger syndrome, also called cerebrohepatorenal syndrome is a rare, congenital disorder (present at birth), characterized by the reduction or absence of peroxisomes in the cells of the liver, kidneys, and brain. It is one of a family of disorders called leukodystrophies.
Zellweger syndrome is an autosomal recessive disorder caused by mutations in genes that encode peroxins, proteins required for the normal assembly of peroxisomes.
As a result of impaired peroxisome function, an individual’s tissues and cells can accumulate very long chain fatty acids (VLCFA) and branched chain fatty acids (BCFA) that are normally degraded in peroxisomes. The accumulation of these lipids can impair the normal function of multiple organ systems, as discussed below. In addition, these individuals can show deficient levels of plasmalogens, ether-phospholipids that are especially important for brain and lung function
Hello. My name is Pamela. Our 13 month old son has a PBD-Zellweger Spectrum. Here is a link to the Family Registry and Support Group Coordinator for the Global Foundation for Peroxisomal Disorders (www.thegfpd.org) which may be of interest to your readers. Thank you!