Zellweger syndrome is a rare genetic congenital (present at birth) disorder in which there is a reduction or absence of peroxisomes (cell structures that rid the body of toxins) in the cells of the liver, kidneys, and brain. Children with Zellweger syndrome are unable to process certain types of chain fatty acids.
Peroxisomes are usually plentiful in the liver and kidneys. Because peroxisomes are lacking in those with Zellweger syndrome, the body is not adequately detoxified.
Zellweger syndrome is an autosomal recessive disorder that is caused by mutations in one of the following genes: PEX1, PEX2, PEX3, PEX5, PEX6, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, or PEX26. Mutations in one or more of these genes inhibit the proper formation of peroxisomes.
Blood tests are used to analyze amounts of fatty acids, bile acid, and pipecolic acid,as well as diminished plasmalogen levels. Amniotic testing is also available to pregnant mothers.
Zellweger syndrome is a rare disease and affects less than 200,000 people in the United States. It is estimated to occur in 1 in 50,000 individuals. Children with Zellweger syndrome usually do not live beyond the first year of life. Treatment is usually to assist with symptom management.