Definition:
Zellweger syndrome is a congenital disorder caused by reduced or absent peroxisomes in the cells of the liver, kidneys, and brain. Peroximes are cell structures that get rid of toxic substances in the body. The syndrome belongs to a group of peroxisomal diseases, which affect brain development and the growth of the myelin sheath on nerve fibers in the brain.
Treatment:
Zellweger syndrome neither has a cure nor a standard course of treatment. Infections are monitored to prevent complications such as pneumonia and respiratory distress. Other treatment is based on symptoms and only alleviate the patient's condition. Affected infants usually die at the age of 6 months that may have been caused by respiratory distress, gastrointestinal bleeding, or liver failure.
Symptoms and Signs:
Individuals with the syndrome usually have an enlarged liver, a blood stream with high levels of iron and copper, and vision disturbances. Failure in prenatal growth may show in some affected infants. Congenital symptoms may include an absence of muscle tone, an inability to move and glaucoma. Other affected individuals may have unusual facial features, mental retardation, seizures, and an inability to suck or swallow. Others may also have jaundice and gastrointestinal bleeding.
Causes:
An abnormality in one of the several genes involved with peroxisome biogenesis causes a person's inability to beta-oxidize very-long chain fatty acids in the peroxisomes of the cell resulting in Zellweger syndrome. PEX1, PEX2, PEX3, PEX5, PEX6, PEX12, PEX14, and PEX26 are some of the peroxins associated with the syndrome.
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