The molecular basis of mucopolysaccharidosis type I in two Thai patients.
Loading...
Files
Date
2005-09-28
Journal Title
Journal ISSN
Volume Title
Publisher
Abstract
Two Thai patients diagnosed with Hurler syndrome (mucopolysaccharidosis type 1, MPS I) were found to have no detectable alpha-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).
Description
The Southeast Asian Journal of Tropical Medicine and Public Health.
Keywords
Citation
Ketudat Cairns JR, Keeratichamroen S, Sukcharoen S, Champattanachai V, Ngiwsara L, Lirdprapamongkol K, Liammongkolkul S, Srisomsap C, Surarit R, Wasant P, Svasti J. The molecular basis of mucopolysaccharidosis type I in two Thai patients. The Southeast Asian Journal of Tropical Medicine and Public Health. 2005 Sep; 36(5): 1308-12