Mucopolysaccharidosis type II (Hunter syndrome) in a boy from the Republic of Serbia: A case report
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Published:2023
Issue:45
Volume:
Page:327-333
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ISSN:1450-9636
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Container-title:Kragujevac Journal of Science
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language:en
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Short-container-title:Kragujevac J Science
Author:
Tubić-Vukajlović Jovana, Bojović Lana, Jevremović Nevena, Simić IvanORCID
Abstract
Mucopolysaccharidosis type II or Hunter syndrome is a hereditary, progressive disease that occurs due to the deposition of acidic glucosaminoglycans in lysosomes, due to hereditary deficits of specific degradation enzymes. A two-year-old boy was hospitalized and diagnosed with macrocephaly, hepatomegaly and at the age of four, an iduronate 2-sulfatase (IDS) gene analysis was performed and a mutation on the 3rd exon (c.262C>T, p.R88C) on the X chromosome was determined. Only four years after the diagnosis of Hunter syndrome, the boy begins to receive enzyme therapy - the drug Elaprase. During the period of receiving therapy, the boy's progression of the disease was significantly reduced.
Funder
Ministry of Education, Science and Technological Development of the Republic of Serbia
Publisher
Centre for Evaluation in Education and Science (CEON/CEES)
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