James R. Ketudat CairnsSiriporn KeeratichamroenSupattra SukcharoenVoraratt ChampattanachaiLukana NgiwsaraKriengsak LirdprapamongkolSomporn LiammongkolkulChantragan SrisomsapRudee SuraritPornswan WasantJisnuson SvastiChulabhorn Research InstituteSuranaree University of TechnologyMahidol University2018-06-212018-06-212005-09-01Southeast Asian Journal of Tropical Medicine and Public Health. Vol.36, No.5 (2005), 1308-1312012515622-s2.0-30344436387https://repository.li.mahidol.ac.th/handle/20.500.14594/16836Two 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).Mahidol UniversityMedicineArticleSCOPUS