Recurrent acute pancreatitis associated with propionic acidemia

Propionic acidemia (PA) is a severe metabolic disorder of infants and children (1), resulting from a defect in the mitochondrial enzyme propionyl-coenzyme A carboxylase (PCC). PA is inherited in an autosomal recessive manner. Patients experience metabolic acidosis, ketosis, seizures, and mental retardation. Acute pancreatitis is a potentially life-threatening inflammatory disorder that has many known inciting factors, including metabolic derangements (2,3). However, although acute pancreatitis has been associated with PA (4,5), recurrent acute pancreatitis is rare. We report a case of an infant with PA in whom recurrent acute pancreatitis developed.