Zellweger syndrome is a rare genetic disorder that affects newborn babies. It is one of three peroxisome biogenesis disorders which belong to the Zellweger spectrum of peroxisome biogenesis disorders (PBD-ZSD) . The disorder is caused by defects in any one of the PEX genes that are essential for the normal assembly of peroxisomes. Peroxisomes are organelles that are responsible for breaking down very long-chain fatty acids and other substances in the body. Zellweger syndrome is the most severe of the three disorders in the Zellweger spectrum.
Symptoms of Zellweger syndrome include neurological abnormalities such as cognitive impairment and seizures, an enlarged liver, characteristic facial features such as a high forehead, underdeveloped eyebrow ridges, and wide-set eyes, and hypotonia (low muscle tone) . Infants with Zellweger syndrome may also lack muscle tone to the point of being unable to move, and may not be able to suck or swallow. Other symptoms can include glaucoma, retinal degeneration, impaired hearing, jaundice, gastrointestinal bleeding, and skeletal abnormalities. Zellweger syndrome can also affect the function of many other organ systems.
Zellweger syndrome is a rapidly progressive disorder with a high mortality rate. There is no cure for Zellweger syndrome, and most treatments are symptomatic and supportive. Some therapies may ease symptoms, but there aren’t any treatments that address the cause of Zellweger syndrome. People with a family history of Zellweger syndrome may consider genetic counseling to evaluate their risk of passing the disease to their children or grandchildren.
