Assessment of respiratory involvement in children with mucoplysaccharidosis using pulmonary function tests

Mucopolysaccharidosis (MPS) are classified into seven clinical types based on eleven known lysosomal enzyme deficiencies of glycosaminoglycan (GAG) metabolism. Respiratory involvement seen in most MPS types includes recurrent respiratory infections, upper and lower airway obstruction, tracheomalacia, restrictive lung disease, and sleep disturbances. To delineate the pattern of respiratory compromise and pulmonary function abnormalities in MPS patients. This is a cross section observational study conducted on 30 patients recruited from the Neurometabolic Clinic, Children’s Hospital, Cairo University over a period of 18months. All patients were screened first by the quantitative determination of GAGs in urine, and diagnosis was confirmed by unidimensional electrophoresis for GAGs in urine and/or specific enzymatic assay in blood leucocytes. Infant pulmonary functions (IPFT) were done in twenty-two patients (