Mitochondrial Dysfunction in Propionic Acidemia: A Case‐Report and Review of the Literature

Le résumé fourni par la source

Propionic acidemia is an inborn error of metabolism involving an enzymatic defect of propionyl-CoA carboxylase that results in the build-up of toxic metabolites which can induce metabolic decompensation. Secondary mitochondrial dysfunction in propionic acidemia has been commonly recognized; however, its clinical presentation and management are not well represented in literature. Here, we present a case of profound hyperglycemia and lactic acidosis without hyperammonemia in a propionic acidemia patient, where medical management incorporated mitochondrial dysfunction via a brief reduction in glucose infusion rate. We review the literature on propionic acidemia and mitochondrial dysfunction in an effort to provide a tangible clinical case where considerations of mitochondrial dysfunction were made to guide further decision making in taking care of this patient population.

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