Zellweger Syndrome

Zellweger syndrome is one of four related inherited diseases called peroxisome biogenesis disorders (PBD). Peroxisomes help process fats and break down toxins and are needed for healthy cell function in many organs of the body. If they don’t form or function properly, very serious metabolic and neurological symptoms result and can begin even in fetal development. Treatments are limited and infants born with this devastating disease usually do not live past six months.

Zellweger Syndrome is now included in the Ashekanazi Jewish Screening Panel at the Icahn School of Medicine at Mount Sinai.

The above information was compiled from sources including the National Institute of Neurologic Disorders and Stroke. Visit their website for more details and additional resources. To find a genetic counselor in your area, visit www.KnowYourGenes.org.