Table 1. Major respiratory manifestations in inherited metabolic diseases
ILDLower airways infectionsChronic airway aspirationPulmonary hypertensionAlveolar hypoventilationUpper airway obstruction ± OSAS
Lysosomal disordersLysosomal disordersNiemann–Pick type A and CGaucher disease type IGlycogenosis type IIMucopolysaccharidoses
Lysinuric protein intoleranceLysinuric protein intoleranceGaucher disease type II and III (neuronopathic form)Glycogenosis type Ia and IbMitochondrial disorders Mucopolysaccharidoses
Glycogenosis type I and II Farber disease Hereditary orotic aciduriaOrganic acidaemias Mitochondrial disordersWolman diseaseInherited metabolic diseases with enlarged abdominal organs (e.g. lysosomal disorders) and/or neurological involvement

  • ILD: interstitial lung disease; OSAS: obstructive sleep apnoea syndrome.