Abstract

Inborn Errors of Metabolism (IEMs) are a large heterogeneous group of monogenic disorders that affect specific metabolic pathways. Although the clinical picture is variable and shows a multisystemic impairment, most of these defects encompass neurologic symptoms and signs. The respiratory involvement may represent a late-onset feature of a complex multisystemic disease or the only manifestation of an underlying IEM. The severity of the respiratory disease can range from mild aspecific symptoms, such as tachypnea and respiratory distress in response to metabolic acidosis, to severe conditions, such as respiratory failure and restrictive disease. This review aims to offer an overview of the principal IEMs with neurologic and respiratory involvement, highlighting the significance of early recognition and multidisciplinary management for optimal patient care.

Keywords: Inborn errors of metabolism, lung, mucopolysaccharidosis, pulmonary, respiratory complications, restrictive respiratory disease, inborn errors of metabolism.