1800 800 340

Disability Glossary

Search for glossary terms (regular expression allowed)
Begin with Contains Exact termSounds like
Term Definition
Zellweger syndrome

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. They are caused by defects in any one of 12 genes, termed PEX genes, that are required for the normal formation and function of peroxisomes (cell structures that break down toxic substances in the liver, kidneys, eyes, and brain, and synthesize fatty materials that are necessary for cell function). Peroxisomes are required for normal brain development and the function and formation of myelin, the whitish material that coats nerve fibers. The PBDs are divided into two groups: Zellweger spectrum disorders and Rhizomelic Chondrodysplasia Punctata spectrum.

Zellweger syndrome is the most severe of three PBD disorders that have overlapping features; the other disorders being neonatal adrenoleukodystropsy and Infantile Refsum Disease, the mildest disorder. Symptoms of the Zellweger spectrum disorders include an enlarged liver; characteristic facial features such as a high forehead, underdeveloped eyebrow ridges, and wide-set eyes; and neurological abnormalities such as mental retardation and seizures. Infants will 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, an