The molecular basis of mucopolysaccharidosis type I in two Thai patients

The molecular basis of mucopolysaccharidosis type I in two Thai patients

Two 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...

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Bibliographic Details
Main 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
Other Authors: Chulabhorn Research Institute
Format: Article
Published: 2018
Subjects:
Medicine
Online Access:https://repository.li.mahidol.ac.th/handle/123456789/16836
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Institution: Mahidol University
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Summary:Two 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).

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