title: The molecular basis of mucopolysaccharidosis type I in two Thai patients.
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).
authors.affiliation: Laboratory of Biochemistry, Chulabhorn Research Institute, Bangkok, Thailand.
authors.forename: James R
authors.initials: JR
authors.lastname: Ketudat Cairns
authors.forename: Siriporn
authors.initials: S
authors.lastname: Keeratichamroen
authors.forename: Supattra
authors.initials: S
authors.lastname: Sukcharoen
authors.forename: Voraratt
authors.initials: V
authors.lastname: Champattanachai
authors.forename: Lukana
authors.initials: L
authors.lastname: Ngiwsara
authors.forename: Kriengsak
authors.initials: K
authors.lastname: Lirdprapamongkol
authors.forename: Somporn
authors.initials: S
authors.lastname: Liammongkolkul
authors.forename: Chantragan
authors.initials: C
authors.lastname: Srisomsap
authors.forename: Rudee
authors.initials: R
authors.lastname: Surarit
authors.forename: Pornswan
authors.initials: P
authors.lastname: Wasant
authors.forename: Jisnuson
authors.initials: J
authors.lastname: Svasti
mesh_terms: D001483:Base Sequence; D002675:Child, Preschool; D017931:DNA Primers; D005260:Female; D006801:Humans; D008059:Mucopolysaccharidosis I / Q000175:diagnosis / Q000235:genetics*; D011110:Polymorphism, Genetic; D017422:Sequence Analysis, DNA; D013785:Thailand
chemical_list: D017931:DNA Primers