A case of propionic acidemia presenting with choreoathetoid movements

Abstract

Propionic acidemia is a disorder of branch-chain aminoacid metabolism. The defect is in the propionyl-CoA carboxylase enzyme with a resultant accumulation of toxic organic acid metabolites. This disorder most commonly is characterized by episodic decompansations with dehydration, lethargy, nause and vomiting. Patients with propionic acidemia usually present in the neonatal period with life-threatining ketoacidosis, often complicated by hyperammonemia. Neurological findings and mental retardation could accompanied clinical manifestations. We report a six-month-old child who had been investigated for choreoathetoid movements and pancytopenia in our clinic with unusual manifestations with a diagnosis of propionic acidemia.