Infectious diseases and metabolic emergencies in inborn errors of metabolism

Inborn errors of metabolism (IEM) can present as emergencies during acute metabolic decompensation that requires specific therapies to avoid morbidity and death. Metabolic imbalance is usually precipitated by diet or intercurrent illness, and symptoms are nonspecific, increasing the possibility of a missed diagnosis. The principle of acute management is to stop further decompensation and provide adequate metabolic needs.

Automated summary

Inborn errors of metabolism (IEM) can manifest as emergencies during acute metabolic decompensation, necessitating specific treatments to prevent morbidity and mortality. Metabolic imbalance is often triggered by diet or concurrent illnesses, with nonspecific symptoms that increase the risk of missed diagnosis. The principle of acute management is to halt further decompensation and ensure adequate metabolic requirements are met.