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It affects the peroxisomes, which are organelles in the body that are meant to breakdown items like acids and toxic compounds. Both parents will have to have the recessive gene for the child to show symptoms. If one parent has the gene and the other one does not, the child will be a carrier and will not show symptoms.
Peroxisomal disorders represent a class of medical conditions caused by defects in peroxisome functions. [1] This may be due to defects in single enzymes [2] important for peroxisome function or in peroxins, proteins encoded by PEX genes that are critical for normal peroxisome assembly and biogenesis.
Basic structure of a peroxisome Distribution of peroxisomes (white) in HEK 293 cells during mitosis Peroxisome in rat neonatal cardiomyocyte. A peroxisome (IPA: [pɛɜˈɹɒksɪˌsoʊm]) [1] is a membrane-bound organelle, a type of microbody, found in the cytoplasm of virtually all eukaryotic cells. [2] [3] Peroxisomes are oxidative organelles.
Zellweger syndrome is an autosomal recessive disorder caused by mutations in genes that encode peroxins, proteins required for the normal assembly of peroxisomes. Most commonly, patients have mutations in the PEX1 , PEX2 , PEX3 , PEX5 , PEX6 , PEX10 , PEX12 , PEX13 , PEX14 , PEX16 , PEX19 , or PEX26 genes. [ 8 ]
The peroxisome is an organelle in the cell similar to the lysosome that functions to detoxify the cell. Peroxisomes contain many different enzymes, such as catalase, and their main function is to neutralize free radicals and detoxify drugs. For this reason peroxisomes are ubiquitous in the liver and kidney.
Pipecolic acidemia is a very rare autosomal recessive metabolic disorder that is caused by a peroxisomal defect.. Pipecolic acidemia can also be an associated component of Refsum disease with increased pipecolic acidemia (RDPA), [2] as well as other peroxisomal disorders, including both infantile and adult Refsum disease, [3] [4] [5] and Zellweger syndrome.
Symptoms can vary depending on the type of alopecia areata you have. Different types include: Patchy alopecia areata. This is a common type of alopecia areata, also characterized by round patches ...
Prevalence of clinical symptoms suggestive of KBD reaches 100% in 5- to 15-year-old children in at least one village. Prevalence rates of over 50% are not uncommon. A clinical prevalence survey carried out in Lhasa prefecture yielded a figure of 11.4% for a study population of approximately 50,000 inhabitants. As in other regions of China ...