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Genetic and Rare Diseases Information Center (GARD)

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Zellweger syndrome

Other Names for this Disease
  • Cerebrohepatorenal syndrome
  • CHR
  • Zellweger leukodystrophy
  • ZS
  • ZWS
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What causes Zellweger syndrome?

Zellweger syndrome is an autosomal recessive condition caused by changes (mutations) in any one of at least 12 different genes involved in the creation and proper function of peroxisomes. Peroxisomes are structures within cells that are involved in numerous chemical processes needed for the body to function properly. They are vital for the proper breakdown of fatty acids and the production of certain lipids important to the nervous system and digestion. They are also important parts of waste disposal and help with the development and function of the brain. Mutations in the disease-causing genes cause the dysfunction of peroxisomes, and thus the signs and symptoms associated with Zellweger syndrome.[1]

Almost 70% of individuals with a Zellweger spectrum disorder have a mutation in the PEX1 gene.[1] The other genes associated with the Zellweger spectrum each account for a smaller percentage of cases of the condition.[2] To see a list of the genes associated with Zellweger syndrome click here.
Last updated: 12/30/2011

  1. Zellweger Spectrum Disorders. NORD. September 15, 2008; Accessed 12/29/2011.
  2. Zellweger spectrum. Genetics Home Reference. April 2010; Accessed 12/29/2011.