Cardiac Complications in Patients with Propionic Acidemia

Abstract

Propionic acidemia, is an autosomal recessive disorder due to the deficiency of the enzyme propionyl-coenzyme A carboxylase, which is a critical component for the metabolism of certain amino acids and lipids. The clinical complications are varied and may present at any time in the patient's life, mainly the neurological symptoms. Outside the central nerve system, haematological abnormalities including anaemia, neutropenia, thrombocytopenia or pancytopenia, immune defects, osteoporosis and pancreatitis are other rare complications reported. Of note, cardiac diseases have been recognized as increasing and life-threatening manifestations, including cardiomyopathy and electrophysiological changes such as prolongation of the QT interval. The possible mechanisms of propionic acidemia-associated cardiac disorder, and the importance of appropriate management and early recognition, are discussed.