Zellweger Syndrome is a rare, congenital disorder (present at birth), characterized by the reduction or absence of peroxisomes (cell structures that rid the body of toxic substances) in the cells of the liver, kidneys, and brain. It is characterized by an individual's inability to beta-oxidize very-long chain fatty acids in the peroxisomes of the cell, due to a genetic disorder in one of the several genes involved with peroxisome biogenesis.

The disorder is one of three peroxisome biogenesis disorders which are also known as the Zellweger spectrum. The other two diseases are neonatal adrenoleukodystrophy (NALD), and infantile Refsum disease (IRD).

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National Institute of Child Health and Human Development (NICHD) National Institutes of Health, DHHS 31 Center Drive, Rm. 2A32 MSC 2425 Bethesda, MD 20892-2425 http://www.nichd.nih.gov Tel: 301-496-5133 Fax: 301-496-7101	National Organization for Rare Disorders (NORD) P.O. Box 1968 55 Kenosia Avenue Danbury, CT 06813-1968 orphan@rarediseases.org http://www.rarediseases.org Tel: 203-744-0100 Voice Mail 800-999-NORD (6673) Fax: 203-798-2291
United Leukodystrophy Foundation 2304 Highland Drive Sycamore, IL 60178 office@ulf.org http://www.ulf.org Tel: 815-895-3211   800-728-5483 Fax: 815-895-2432

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National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892

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Credit: the NINDS and the NIH

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