G300(P) Patients with mucopolysaccharidosis and infantile onset pome disease are at increased risk of respiratory morbidity and obstructive sleep apnoea

Introduction Respiratory disease complicates the management of several inherited metabolic diseases, increasing morbidity, mortality. All patients should therefore undergo detailed diagnostic work-up & regular monitoring via a multi-disciplinary approach. Aims To gather epidemiological data on the respiratory manifestations of children with inherited metabolic diseases at a quaternary metabolic center. Method Using a database of all patients with inherited metabolic disease (total patients: 1022), those with input from respiratory/ENT services were identified. Using in-house IT systems, data was collected including patient demographics, diagnosis of airway pathology, management including use of invasive (IV) and non-invasive ventilation (NIV) and follow up data. Results In total 76 patients were identified as requiring input from respiratory/ENT services. Table 1 outlines the main results, detailing the number of patients within each group of inherited metabolic disease, number requiring NIV or IV, mean age at onset of respiratory support and the number of patients with follow up arranged. 26% (17/65) of patients with Mucopolysaccharidosis (MPS) had a diagnosis of obstructive sleep apnoea (OSA). Conclusion Patients with MPS and IOPD disease require respiratory support in many cases. Those with MPS are at risk of OSA due to glycosaminoglycan deposition and tortuosity of airways. Alveolar hypoventilation due to respiratory muscle dysfunction occurs in those with IOPD leading to type 2 respiratory failure. Recognition of these manifestations is essential, as early intervention has a significant impact in slowing the decline of previously fatal complications improving the quality of life for these patients.