Zellweger syndrome is a rare metabolic disorder characterized by multiple abnormalities such as cerebral dysfunction, defective myelination, craniofacial abnormalities, renal cysts, hepatomegaly, and biliary dysgenesis. Cytologically, liver and kidney peroxisomes are lacking. Thus, this condition is one of the many types of peroxisomal disorder. The underlying cause of the dysfunctional peroxisome leading to Zellweger syndrome is a genetic mutation in any of the genes involved in the peroxisome assembly and biogenesis. The most common type is mutation involving the PEX1 gene. Nearly 70% of the individuals with this condition have PEX1 gene mutation.1 Zellweger syndrome is inherited in an autosomal recessive pattern. This means that the individual has two copies of the defective gene and therefore manifests symptoms associated with the disease. A carrier of the disease would have only one copy of the defective gene and therefore may not show symptoms. Zellweger syndrome is named after Hans Zellweger, a Swiss-American pediatrician who conducted research on this disorder. Synonym:
- Genetic and Rare Diseases Information Center (GARD). (2014). Zellweger syndrome: cause. Retrieved from https://rarediseases.info.nih.gov/diseases/7917/zellweger-syndrome.
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