Hans Zellweger, a Swiss American professor of pediatrics and genetics at the University of Iowa in the mid-1960s described the familial disorder among siblings that was later named after him for the recognition of his discovery, the Zellweger Syndrome.
Peroxisomes are cell structures that break down toxic substances and synthesize lipids (fatty acids, oils, and waxes) that are needed for cell function. Peroxisomes are what is needed for normal brain development and its function and it’s what forms the myelin cover which is the substance that coats nerve fibers. Nerve fibers are very thin, thread-like transmission lines that basically carry signals. Responsible for delivering signals and sensations from the nerves to various parts of the human body, such as in the skin, muscles, and internal organs. Now, any one of the 13 genes, termed PEX gene with a defect is a …show more content…
A diagnosis of a Zellweger syndrome is usually suspected when characteristic signs and symptoms are present at birth, such as seen in facial features. Blood and urine samples can confirm the test of having this syndrome. Genetic tests can also help confirm a diagnosis. Carrier testing for at risk relatives is also done to see if and how much a person is at risk for having a pregnancy with Zellweger syndrome as well. Through the blood test, high levels of very long chain, fatty acids is a detection of it. Obtaining cells in the fluid of the amnion (amniocentesis) is another possibility to detect plasminogen synthesis and fatty acid levels prior to a person’s birth. Most infants born with Zellweger syndrome don’t make it through the first year of life. Most brain abnormalities permits Zellweger syndrome to be identified and distinguished from the other diseases involving the brain
Peroxisomes are cell structures that break down toxic substances and synthesize lipids (fatty acids, oils, and waxes) that are needed for cell function. Peroxisomes are what is needed for normal brain development and its function and it’s what forms the myelin cover which is the substance that coats nerve fibers. Nerve fibers are very thin, thread-like transmission lines that basically carry signals. Responsible for delivering signals and sensations from the nerves to various parts of the human body, such as in the skin, muscles, and internal organs. Now, any one of the 13 genes, termed PEX gene with a defect is a …show more content…
A diagnosis of a Zellweger syndrome is usually suspected when characteristic signs and symptoms are present at birth, such as seen in facial features. Blood and urine samples can confirm the test of having this syndrome. Genetic tests can also help confirm a diagnosis. Carrier testing for at risk relatives is also done to see if and how much a person is at risk for having a pregnancy with Zellweger syndrome as well. Through the blood test, high levels of very long chain, fatty acids is a detection of it. Obtaining cells in the fluid of the amnion (amniocentesis) is another possibility to detect plasminogen synthesis and fatty acid levels prior to a person’s birth. Most infants born with Zellweger syndrome don’t make it through the first year of life. Most brain abnormalities permits Zellweger syndrome to be identified and distinguished from the other diseases involving the brain