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The molecular basis of mucopolysaccharidosis type I in two Thai patients.
Ketudat Cairns, James R; Keeratichamroen, Siriporn; Sukcharoen, Supattra; Champattanachai, Voraratt; Ngiwsara, Lukana; Lirdprapamongkol, Kriengsak; Liammongkolkul, Somporn; Srisomsap, Chantragan; Surarit, Rudee; Wasant, Pornswan; Svasti, Jisnuson.
Southeast Asian J Trop Med Public Health ; 2005 Sep; 36(5): 1308-12
Article in English | IMSEAR | ID: sea-30647
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).
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Full text: Available Index: IMSEAR (South-East Asia) Main subject: Polymorphism, Genetic / Thailand / Female / Humans / Base Sequence / Child, Preschool / Mucopolysaccharidosis I / Sequence Analysis, DNA / DNA Primers Country/Region as subject: Asia Language: English Journal: Southeast Asian J Trop Med Public Health Year: 2005 Type: Article

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Full text: Available Index: IMSEAR (South-East Asia) Main subject: Polymorphism, Genetic / Thailand / Female / Humans / Base Sequence / Child, Preschool / Mucopolysaccharidosis I / Sequence Analysis, DNA / DNA Primers Country/Region as subject: Asia Language: English Journal: Southeast Asian J Trop Med Public Health Year: 2005 Type: Article