Zellweger syndrome is an inherited genetic disorder that adversely affects the liver, brain and kidneys. If both parents have the specific gene for the syndrome, then there is a twenty-five percent chance that the child will inherit the syndrome. Zellweger syndrome is present at birth, and is usually diagnosed based on the characteristic appearance of the face and head.

So, how does Zellweger syndrome affect the cells? Basically, if an infant is born with the syndrome, then certain cytoplasmic organelles known as perioxisomes are either not produced or they are produced in reduced numbers. Perioxisomes are present in the cells of the brain, liver and kidneys, and they are the organelles that clean out toxic substances from the cells.

Mutation in the 12th chromosome leads to Zellweger syndrome. This mutation stops the cells of the brain, kidneys and liver from producing perioxisomes, which is a protein. The perioxisomes also contain many important enzymes that are required for different important chemical reactions, mainly oxidation.

Although perioxisomes are present in all cells, there numbers are high in the cells of the brain, liver and kidneys, and that is why these organs are severely affected by the disorder.

An infant born with the syndrome will suffer from mental retardation, impairment of the vision, enlarged head, high forehead, eyes slanting upwards, low muscle tone and seizures. Although there is no cure for Zellweger syndrome, the doctors try to offer symptomatic treatment for the problems arising on account of the disorder. Unfortunately, majority of the infants die within the first year of their births.

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