Zellweger syndrome is one of a group of four related diseases called peroxisome biogenesis disorders (PBD), which are part of a larger group of diseases known as the leukodystrophies. These are inherited conditions that damage the white matter of the brain and also affect how the body metabolizes particular substances in the blood and organ tissues. Zellweger syndrome is the most severe of the PBDs. Infantile Refsum disease (IRD) is the mildest, and neonatal adrenoleukodystrophy and rhizomelic chondrodysplasia have similar but less severe symptoms. The PBDs are caused by defects in genes that are active in brain development and the formation of myelin, the whitish substance found in the cerebral cortex area of the brain. After birth, defects in the same genes reduce or eliminate the presence of peroxisomes – cell structures that break down toxic substances in the cells of the liver, kidneys, and brain. As a result, in Zellweger syndrome, high levels of iron and copper build up in blood and tissue and cause the characteristic symptoms of the disease. These symptoms include an enlarged liver; facial deformities such as a high forehead, underdeveloped eyebrow ridges, and deformed ear lobes; and neurological abnormalities, such as mental retardation and seizures. Infants with Zellweger syndrome also lack muscle tone, sometimes to the point of being unable to move, and may not be able to suck or swallow. Some babies will be born with glaucoma, retinal degeneration, and impaired hearing. Jaundice and gastrointestinal bleeding may also occur.
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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Last updated December 11, 2007