Zellweger spectrum disorders are a group of rare, genetic, multisystem disorders that were once thought to be separate entities. These disorders are now classified as different expressions (variants) of one disease process. Collectively, they form a spectrum or continuum of disease. The symptoms of Zellweger spectrum disorders vary greatly from one individual to another. The specific number and severity of symptoms present in an individual are highly variable and affected infants will not have all of the symptoms discussed below. The most severe form, Zellweger syndrome, is usually noticeable shortly after birth. Infants with Zellweger syndrome often have severe neurological deficits, progressive dysfunction of the liver and kidneys and usually develop life-threatening complications during the first year of life.
HOW IS ZELLWEGER SYNDROME DIAGNOSED?
A neurologist would do the diagnosis of this problem by checking for longer chain of fatty acids in blood plasma via blood tests.
HOW IS ZELLWEGER SYNDROME TREATED?
There are no available cures for Zellweger Syndrome. However, it is possible that one can control the disease from getting worse by eating healthy and ensuring that the onset of other diseases can be avoided. Hence, such people should maintain caution lifelong and try their best to avoid infections.
DID YOU KNOW?
The National Institute of Neurological Disorders and Stroke (NINDS), and other institutes of the National Institutes of Health (NIH), conduct research exploring the molecular and genetic basis of Zellweger syndrome and the other PBDs, and also support additional research through grants to major research institutions across the country. Much of this research focuses on finding better ways to prevent, treat, and ultimately cure disorders such as Zellweger syndrome.