Morquio B patient/caregiver survey: First insight into the natural course of a rare GLB1 related condition

Publication date: September 2018Source: Molecular Genetics and Metabolism Reports, Volume 16Author(s): Maria Bleier, Nataliya Yuskiv, Tina Priest, Marioara Angela Moisa Popurs, Sylvia Stockler-Ipsiroglu, BC Children's Hospital, The University of British ColumbiaAbstractMorquio B disease (MBD) or Mucopolysaccharidosis type IV B (MPS IV B) is caused by particular GLB1 mutations specifically affecting the affinity of beta-galactosidase to keratan sulphate, resulting in dysostosis multiplex resembling Morquio A (MPS IV A) disease (GALNS deficiency). Additional neuronopathic features of GM1 II/III (juvenile/adult) gangliosidosis have been reported in some patients. Our patient/caregiver online survey was aimed at elucidating the clinical manifestations of this ultra-rare condition.Comparing to previously published data on MPS IV A, the 30 respondents in our MBD group presented with greater growth chart values (weight and height) and with lesser effects of odontoid hypoplasia. The most common concerns are: (1) mobility issues - 84% having difficulty walking; (2) chronic pain - 96%; (3) surgeries - average 3 per person, 80% for hip problems; (4) hip dysplasia, knee/ankle concerns, and scoliosis. Approximately 50% of MBD participants live independently and actively contributing to society.Evidence from our survey results supports the notion that skeletal manifestations in MBD are milder than in the majority of patients with MPS IV A. The data collected will help with the establishmen...
Source: Molecular Genetics and Metabolism Reports - Category: Genetics & Stem Cells Source Type: research