Zellweger Syndrome Essay

Zellweger syndrome (ZS) is an autosomal recessive systemic disorder and is one of four related diseases called Peroxisome Biogenesis Disorders, and is said to occur in 1 in 50,000 individuals. The diseases are caused by defects in any one of twelve genes called PEX genes. (Koroshetz, 2016). Zellweger syndrome is the most severe disease in a subgroup of three similar diseases with overlapping symptoms. Zellweger syndrome is inherited and impairs the proper functioning of the body’s peroxisomes, which is a cellular structure that breaks down metabolic waste products and fatty acids. (Cobb & Alic, 2015). Infants with Zellweger syndrome (ZS) usually die before turning one year-old and do not reach many of the milestones that normal functioning infants would. These infants also lack muscle tone, sometimes to the point of being unable to move, and may not be able to suck or swallow. Some babies will be born with glaucoma, retinal degeneration and impaired hearing, and some are severely hypotonic from birth. (Cobb & Alic, 2015). Adrenal insufficiency has …show more content…
For instance, a child born unable to swallow will require a feeding tube to receive the adequate nutrition he or she needs to survive. Plastic surgery can be done to correct minimal facial deformities, and jaundiced children due to the effects of liver dysfunction can undergo light therapy. The majority of infants die before reaching 6 months, however, some defy the odds and live to teenage years and even to adulthood. Berendse, Engelen & Ferdinandusse. (2016). Some patients have been reported to have reduced levels of fat soluble vitamins (A, D, E and K) due to Vitamin K malabsorption and liver dysfunction, requiring them to have a low-phytanic acid and low fat diet, and Vitamin supplements. (Berendse, Engelen, Ferdinandueusse, Majoie, Waterham, Vaz, Koelman, Barth, Wanders, & Poll-The,