Respiratory manifestations as clues to inherited metabolic disorders in children: a phenotype-driven diagnostic approach.

Abstract excerpt

Inherited metabolic disorders (IMDs) are uncommon but clinically important causes of respiratory morbidity in children. Respiratory involvement may be the first or dominant manifestation, although it may precede, accompany, or follow systemic involvement. Because cough, dyspnea, hypoxemia, recurrent infection, abnormal chest imaging, and ventilatory failure are non-specific, affected children may initially be...

Topics

• Humans
• Phenotype
• Child
• Metabolism, Inborn Errors
• Respiratory Tract Diseases
• Metabolic Diseases