Condução inicial de paciente com erro inato do metabolismo em hospital de pequeno porte

Abstract

Propionic acidemia is part of the organic acidemias that constitute a group of inherited autosomal recessive diseases caused by the deficiency of enzymes involved in the catabolism of branched-chain amino acids resulting in the tissue accumulation of one or more carboxylic acids. The objective of this case report is to portray the success obtained with the institution of early treatment due to high clinical and laboratory suspicion of inborn error of metabolism in an infant with seizures, reduced level of consciousness, pancytopenia, metabolic acidosis with high anion gap. and hyperammonemia. The treatment consisted of emergency dialysis, protein restriction with supplementation of cofactors and monitoring of serum ammonia levels. Although conducted in a small hospital, with the diagnostic suspicion as well as the early institution of specific treatment, it was possible to obtain a favorable outcome, this report reinforces the importance for pediatricians and neonatologists of having the hypothesis of inborn error of metabolism as differential diagnosis in a patient with such clinical and laboratory findings since the manifestation occurs mostly in the first months of life.

Keywords

• propionic acidemia
• pediatrics
• metabolism inborn errors