Clinical and biochemical footprints of inherited metabolic diseases. XIII. Respiratory manifestations.

ABSTRACT: At any age, respiratory manifestations are a major cause of increased morbidity and mortality of inherited metabolic diseases (IMDs). Type and severity are extremely variable, this depending on the type of the underlying disorder. Symptoms and signs originating from upper or lower airways and/or thoracic wall and/or respiratory muscles involvement can occur either at presentation or in the late clinical course. Acute respiratory symptoms can trigger metabolic decompensation which, in turn, makes airway symptoms worse, creating a vicious circle. We have identified 181 IMDs associated with various types of respiratory symptoms which were classified into seven groups according to the type of clinical manifestations affecting the respiratory system: (i) respiratory failure, (ii) restrictive lu

SUBMITTER: Rossi A 

PROVIDER: S-EPMC11753447 | biostudies-literature | 2023 Nov

REPOSITORIES: biostudies-literature