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.
Infectious diseases and metabolic emergencies in inborn errors of metabolism
Leonardi S.;Cuppari C.;Pensabene L.;
2022-01-01
Abstract
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.File in questo prodotto:
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