title: Respiratory manifestations in mucopolysaccharidoses.
abstract: Mucopolysaccharidoses (MPS) are a group of inherited, metabolic diseases caused by deficiency of lysosomal enzymes that degrade glycosaminoglycans (GAG). Loss of enzyme activity results in cellular accumulation of GAG fragments leading to the progressive multi-system manifestations. MPS are classified into seven clinical types based on eleven known lysosomal enzyme deficiencies of GAG metabolism. Respiratory involvement is seen in most MPS types with recurrent respiratory infections, upper and lower airway obstruction, tracheomalacia, restrictive lung disease, and sleep disturbances. Patients with airway obstruction are at high risk for anaesthetic complications. In this review, we present the respiratory manifestations in various MPS types and stages, evaluation of respiratory involvement, and treatment options for the progressive respiratory failure that occurs in MPS patients.
authors: Department of Pediatrics, Pulmonology, University of North Carolina at Chapel Hill, NC, USA. Marianne_Muhlebach@med.unc.edu
authors: Marianne S
authors: MS
authors: Muhlebach
authors: William
authors: W
authors: Wooten
authors: Joseph
authors: J
authors: Muenzer
mesh_terms: D006025:Glycosaminoglycans; D006801:Humans; D009083:Mucopolysaccharidoses / Q000150:complications*; D012140:Respiratory Tract Diseases / Q000209:etiology*
chemical_list: D006025:Glycosaminoglycans