Zellweger Syndrome is one of types of peroxisomal metabolic disorders. It is an inherited syndrome. It is caused due to mutations in the gene located in the 12th chromosome. Perioxisomes are structures that are present in the cells of the liver, brain and kidneys. They are responsible for removing any toxic material from the cells. If a person suffers from Zellweger syndrome, there is a reduction or complete cessation of the production of perioxisomes, and this can adversely affect the body.

It is believed that the syndrome is quite rare as it occurs in just one live birth in fifty thousand to hundred thousand live births. Both genders can inherit this syndrome.

Some of the symptoms of the syndrome are as follows:

• The head will be enlarged, and the forehead will be high. Also, the ear lobes will be malformed and the person will have a flat looking face.
• The brain will not develop normally and this leads to problems in the vision and vision. In addition, the person will suffer from seizures, be mentally retarded, show delayed development and have few or no reflexes.
• The liver will be enlarged and it will not function properly leading to jaundice.
• The kidneys will have cysts and also hydronephrosis.
• The person will suffer from hypotonia, which is low tone in the muscles, defects in the bones of the feet, hands and also legs.

The disease is diagnosed at birth due to the characteristic shape of the face and head. Also, an infant suffering from Zellweger syndrome will have very long chain fatty acids, also referred to as VLCFA. Therefore, a test performed for VLCFA is a sure way of confirming the syndrome.

As this is a genetic syndrome, there is no method of curing Zellweger syndrome. Usually when a child is born with the syndrome, he or she succumbs to it in the first year itself. However, treatment measures are adopted to treat the symptoms brought on by the syndrome.

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