Publication: The molecular basis of mucopolysaccharidosis type I in two Thai patients
Issued Date
2005-09-01
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ISSN
01251562
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2-s2.0-30344436387
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Mahidol University
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SCOPUS
Bibliographic Citation
Southeast Asian Journal of Tropical Medicine and Public Health. Vol.36, No.5 (2005), 1308-1312
Suggested Citation
James R. Ketudat Cairns, Siriporn Keeratichamroen, Supattra Sukcharoen, Voraratt Champattanachai, Lukana Ngiwsara, Kriengsak Lirdprapamongkol, Somporn Liammongkolkul, Chantragan Srisomsap, Rudee Surarit, Pornswan Wasant, Jisnuson Svasti The molecular basis of mucopolysaccharidosis type I in two Thai patients. Southeast Asian Journal of Tropical Medicine and Public Health. Vol.36, No.5 (2005), 1308-1312. Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/16836
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Title
The molecular basis of mucopolysaccharidosis type I in two Thai patients
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Abstract
Two Thai patients diagnosed with Hurler syndrome (mucopolysaccharidosis type 1, MPS I) were found to have no detectable α-iduronidase (E.C. 3.2.1.76) activity in leukocytes, while normal Thai children all had significant activity, with a mean of 135 ± 30 nmol/mg/18h. One patient was heterozygous for A75T (311G>A) and S633L (1986C>T) mutation, previously reported to cause MPS I, together with 9 other heterozygous polymorphisms also found in normal controls. The other patient had the previously described frameshift mutation 252insert C and a new nonsense mutation E299X (983G>T).