This is my presentation on Zellweger Syndrome for Biology Honors period 1.
Text of Zellweger syndrome
1. What Is It? Zellweger Syndrome is related to Peroxisome BiogenesisDisorder (PBD), which is part of a larger group of diseases called the leukodystrophies. These are inherited conditionsthat damage the white matter of the brain and also affecthow the body metabolizes particular substances in the blood and organ tissues. It is the most severe of the PBDs.
2. Diagnosis Prenatal diagnosis is achieved via CVS (chorionic villus sampling), an invasive procedure done in early pregnancy that removes a tiny piece of the placenta, andamniocentesis. Determining the amount of peroxisomes via a liver biopsy is considered an essential part of diagnosis. Blood tests that indicate high levels of various organiccompounds in the blood can also confirm the diagnosis. 3. Causes Defects in any one of the 13 genes Termed PEX genes (PEX genes are required forthe normal formation and function of peroxisomes) Dysfunctional lipid metabolism Defects of the bile acids and plasmalogens Lack in, or absence of, peroxisomes 4. Physical Symptoms Defects in the face, development, or eyes Up slanting eyes High forehead Skin folds along the persons nasal borders of thespace between the upper and lower eyelids of theireyes Loss of muscle tone/extreme weakness Seizure activity Jaundice 5. Internal Symptoms Enlarged liver Increased levels of copper and iron in the blood Inability to move Intellectual disability Gastrointestinal bleeding Prenatal growth failure The liver on the left is normal. The liver on the right is enlarged. 6. TreatmentsThere is no cure for Zellweger Syndrome, or a commontreatment. The metabolic and neurological symptoms ofthis disease are formed during the fetal development. Treatments are limited, and most are symptomatic andsupportive. A is a normal brain. B is a brain with Zellweger Syndrome. 7. PrognosisThere is no real prognosis for Zellweger Syndrome. Mostinfants do not survive the first 6 months of life, and usually fall into respiratory distress, gastrointestinal bleeding, orliver failure. 8. Bibliography "NINDS Zellweger Syndrome Information Page." Zellweger Syndrome Information Page: National Institute of Neurological Disorders and Stroke (NINDS). National Institute of Neurological Disorders and Stroke, 27 Sept. 2011. Web. 17 Oct. 2012.. Weiss, Thomas C. "Zellweger Syndrome - Facts and Information." Disabled World. Disabled World, 13 Mar. 2012. Web.17 Oct. 2012. . Honor Society of Nursing. "How Is Zellweger Syndrome Diagnosed?"Sharecare. Sharecare, n.d. Web. 22 Oct. 2012..