Zellweger Syndrome Most children born with Zellweger syndrome do not live past the age of 1. Zellweger syndrome is a rare disorder that is inherited metabolic, and mainly affects peroxisomes in the cell. Signs and symptoms of this disorder start to appear around the newborn period. This disorder is devastating, causing problems to various organs and parts of the human body. These effects are usually life threatening, and currently there are no known cures. Zellweger disease, usually means certain death for any infant born with it.
Some symptoms of ZWS become apparent right around the first few hour of life. Examples of these symptoms include poor muscle tone, abnormal skeletal growth, liver dysfunction, loss of hearing or vision, flattened …show more content…
Zellweger syndrome is an autosomal recessive condition, caused by mutations in any of the 12 genes involved in the creation and function of peroxisomes. Without peroxisomes, various systems are affected like waste disposal, breaking down fatty acids, the nervous system, and production of fats. It is through the mutation of one of these 12 genes that leads to the symptoms of those who bear ZWS. Now comes the question, “How does a child inherit this disease?” The answer comes from the parents’ genes. The parents of a recipient are required to each carry one copy of the mutated gene, and they are referred to as carriers. Carriers themselves, however, do not bear any of the common symptoms of ZWS. According to GARD information center, “If both parents are carriers, there is a 25% chance the child will receive the syndrome, a 50% of being a carrier, and 25% chance of being neither.” (Zellweger Syndrome, …show more content…
These tests usually involve measuring specific substances found in blood or urine, in order to find out if you carry Zellweger syndrome. Another test that can be used to find the mutation of the one of the 12 genes, which can also prove to help diagnose Zellweger syndrome. There is even carrier testing for relatives who are at risk and prenatal testing is also available for parents who are both carriers. According to NIH, “There is no cure for this disorder, thus it takes supportive and symptomatic treatment to treat this disorder.” (Zellweger Syndrome Information Page, Treatment) Meaning, that most treatments only apply to the symptoms and do not do anything about the cause. Examples of treatments would be using a feeding tube for feeding issues, and the use of a team of medical specialists like orthopedists, surgeons, audiologists, and