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A Case of Hunter Syndrome Diagnosed at Age of 2.5 Year  

Choi, Miran (Department of Pediatrics, Inha University Graduate school of Medicine, Inha University Hospital)
Kwun, Younghee (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine)
Jin, Dongkyu (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine)
Lee, Jieun (Department of Pediatrics, Inha University Graduate school of Medicine, Inha University Hospital)
Publication Information
Journal of The Korean Society of Inherited Metabolic disease / v.14, no.2, 2014 , pp. 178-181 More about this Journal
Abstract
Hunter syndrome (mucopolysaccharidosis type II, MPS II) is a X-linked lysosomal storage disease caused by a deficiency in the lysosomal enzyme, iduronate-2-sulfatase (IDS), leading to accumulation of glycosaminoglycans within lysosomes of many organs and tissues. Since the enzyme replacement therapy was approved and available in the treatment of MPS I, II, VI, early diagnosis and early therapy can bring the better prognosis of disease and the better quality of life in patients. We described a 2.5 year old child presented with frequent otitis media and developmental delay including speech impairment, who was diagnosed as Hunter syndrome with IDS NM_000202.5:c. 263G>A(p.Arg88His) mutation.
Keywords
Mucopolysaccharidosis II; Hunter syndrome; Iduronate-2-sulfatase; Enzyme replacement therapy;
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