Diagnosis and treatment of a child with propionic acidemia - an issue both near and distant

Abstract

Propionic acidemia (PA) is a genetic heterogeneous hereditary disease, that is due to deficiency of the mitochondrial enzyme propionyl-CoA carboxylase. As a result of the inherited genetic error of metabolism, propionic acid and propionyl-CoA-related metabolites accumulate in the body. The clinical manifestation of PA is caused by the toxic effect of the formed substances. PA presents with acute encephalopathy, progressive eating disorders, vomiting, dehydration and hypotension, running against the background of severe metabolic ketoacidosis, an increased anion gap (AnGap) ≥15 and hyperammonemia. The clinical condition is defined as an acute metabolic crisis of PA. The early diagnosis and the timely treatment are crucial for the outcome of the disease. We present a clinical case of PA in a two-month-old infant who was admitted to the Pediatric Intensive Care Unit in St. Marina University Hospital, Varna with seizures and disturbance of consciousness. The current clinical case is presented with the aim of focusing on the problems of hereditary diseases of the metabolism, in particular organic acidemias and the critical importance of the initial stabilization and adequate management of the lives of the affected patients.