MULTIDISCIPLINARY APPROACH TO DIAGNOSIS AND MANAGEMENT OF MUCOPOLYSACCHARIDOSIS TYPE VI: A CASE STUDY

Maroteaux-Lamy syndrome, also known as type VI mucopolysaccharidosis, is a rare inherited autosomal recessive lysosomal storage condition that results from decreased or absent arylsulfatase-B activity, caused by mutations in the ARSB gene, most commonly in the form of a missense mutation [2]. The genetic testing identified multiple genetic variants of the ASRB gene, and molecular testing for the respective patient's parents confirmed the presence of defective variants of the gene on opposite chromosomes in the patient's genetic pool. A novel finding in this case with respect to Maroteaux-lamy syndrome was flares of shortness of breath whenever the patient would undergo some physical exertion, and fatiguability was observed commonly throughout the week whenever the patient would perform day to day tasks which required some physical effort, like hanging clothes or mopping the floor, and required taking a break. The patient's management was done through a multidisciplinary approach, including ERT, joint replacement surgery, physiotherapy, speech therapy, and occupational therapy, resulting in progress in recovery with increased capability in performing day-to-day activities.