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KMID : 0918520140140020178
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Journal of the Korean Society of Inherited Metabolic Disease
2014 Volume.14 No. 2 p.178 ~ p.181
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A Case of Hunter Syndrome Diagnosed at Age of 2.5 Year
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Choi Mi-Ran
Kwun Young-Hee
Jin Dong-Kyu
Lee Ji-Eun
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Abstract
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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.
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KEYWORD
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Mucopolysaccharidosis II, Hunter syndrome, Iduronate-2-sulfatase, Enzyme replacement therapy
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