%0 Journal Article %1 noauthororeditor %A M, Miss. Parimala L | Babu %D 2023 %J INTERNATIONAL JOURNAL OF TREND IN SCIENTIFIC RESEARCH AND DEVELOPMENT %K 2-sulfatase, Hunter IDS Iduronate Mucopolysaccharidosis, Turner gene syndrome, %N 1 %P 1096-1099 %T Hunter Syndrome A Case Report %U https://www.ijtsrd.com/medicine/other/52814/hunter-syndrome-a-case-report/miss-parimala-l %V 7 %X Mucopolysaccharidosis type II MPS II or Hunter syndrome is Metabolism by lysosomal accumulation with a recessive inheritance pattern associated with the X chromosome. It is caused by lack of activity of the lysosomal enzyme iduronate 2 sulfatase, encoded by the IDS gene. Plasma iduronate 2 sulfatase enzymatic activity was measured and the IDS gene in genomic DNA was analyzed by automated direct sequencing. The enzyme activity was 1.2 mol l h reference value 2 mol l h and molecular analysis detected the mutation c.1403G A p.R468Q , confirming the diagnosis of MPS II. rice field. In conclusion, there are few groups dedicated to this disease family here in Mexico, highlighting the need to form an expert team of physicians and scientists dedicated to inborn errors of metabolism to stay up to date. Miss. Parimala L | Babu M "Hunter Syndrome: A Case Report" Published in International Journal of Trend in Scientific Research and Development (ijtsrd), ISSN: 2456-6470, Volume-7 | Issue-1 , February 2023, URL: https://www.ijtsrd.com/papers/ijtsrd52814.pdf Paper URL: https://www.ijtsrd.com/medicine/other/52814/hunter-syndrome-a-case-report/miss-parimala-l

@article{noauthororeditor, abstract = {Mucopolysaccharidosis type II MPS II or Hunter syndrome is Metabolism by lysosomal accumulation with a recessive inheritance pattern associated with the X chromosome. It is caused by lack of activity of the lysosomal enzyme iduronate 2 sulfatase, encoded by the IDS gene. Plasma iduronate 2 sulfatase enzymatic activity was measured and the IDS gene in genomic DNA was analyzed by automated direct sequencing. The enzyme activity was 1.2 mol l h reference value 2 mol l h and molecular analysis detected the mutation c.1403G A p.R468Q , confirming the diagnosis of MPS II. rice field. In conclusion, there are few groups dedicated to this disease family here in Mexico, highlighting the need to form an expert team of physicians and scientists dedicated to inborn errors of metabolism to stay up to date. Miss. Parimala L | Babu M "Hunter Syndrome: A Case Report" Published in International Journal of Trend in Scientific Research and Development (ijtsrd), ISSN: 2456-6470, Volume-7 | Issue-1 , February 2023, URL: https://www.ijtsrd.com/papers/ijtsrd52814.pdf Paper URL: https://www.ijtsrd.com/medicine/other/52814/hunter-syndrome-a-case-report/miss-parimala-l }, added-at = {2023-07-04T13:24:59.000+0200}, author = {M, Miss. Parimala L | Babu}, biburl = {https://www.bibsonomy.org/bibtex/256488b19e34d7e6b1f9dee2752fe0313/ijtsrd}, interhash = {fc900a79e97fb4f2065c17654ae5fa27}, intrahash = {56488b19e34d7e6b1f9dee2752fe0313}, issn = {2456-6470}, journal = {INTERNATIONAL JOURNAL OF TREND IN SCIENTIFIC RESEARCH AND DEVELOPMENT}, keywords = {2-sulfatase, Hunter IDS Iduronate Mucopolysaccharidosis, Turner gene syndrome,}, language = {english}, month = feb, number = 1, pages = {1096-1099}, timestamp = {2023-07-04T13:24:59.000+0200}, title = {Hunter Syndrome A Case Report }, url = {https://www.ijtsrd.com/medicine/other/52814/hunter-syndrome-a-case-report/miss-parimala-l}, volume = 7, year = 2023 }