Mucopolysaccharidosis type II (Hunter syndrome) in a boy from the Republic of Serbia: A case report
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, hepatome...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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University of Kragujevac, Faculty of Science
2023-01-01
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| Series: | Kragujevac Journal of Science |
| Subjects: | |
| Online Access: | https://scindeks-clanci.ceon.rs/data/pdf/1450-9636/2023/1450-96362345327T.pdf |
| Summary: | 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. |
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| ISSN: | 1450-9636 2466-5509 |