The molecular basis of mucopolysaccharidosis type I in two Thai patients

• 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
• Institution: Mahidol University

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...