Propionic Acidemia - Case Report With Fatal Outcome

Propionic acidemia is an inborn error of metabolism due to defective enzyme, propionyl-coenzyme A (CoA) carboxylase, which results in an accumulation of propionic acid. In this report we describe a 13 month old male infant who presented with protracted vomiting, psychomotoric delay and normochloremic acidosis. Metabolic decompensation resulted in multiorgan failure-severe anemia, osteopenia, cardiomyopathy, humoral immunodeficiency and coma. The diagnosis was established on the basis of elevated urinary concentration of 3 OH propionic acid. Thus in all children with normochloremic acidosis, neurodevelopmental delay and vomiting one should raise suspicion for organic acidemia. Urinary organic profile should be investigated immediately in order to establish correct diagnosis and administer appropriate treatment.