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: James R Ketudat Cairns, Siriporn Keeratichamroen, Supattra Sukcharoen, Voraratt Champattanachai, Lukana Ngiwsara, Kriengsak Lirdprapamongkol, Somporn Liammongkolkul, Chantragan Srisomsap, Rudee Surarit, Pornswan Wasant, Jisnuson Svasti
• Journal: The Southeast Asian journal of tropical medicine and public health (Southeast Asian J Trop Med Public Health) Vol. 36 Issue 5 Pg. 1308-12 (Sep 2005) ISSN: 0125-1562 [Print] Thailand
• PMID: 16438163 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• DNA Primers

Topics

• Base Sequence
• Child, Preschool
• DNA Primers
• Female
• Humans
• Mucopolysaccharidosis I (diagnosis, genetics)
• Polymorphism, Genetic
• Sequence Analysis, DNA
• Thailand