Pyruvate Carboxylase Deficiency: An Alleged Biochemical Cause of Leigh's Disease

Abstract

Pyruvate carboxylase (PC) deficiency has been suggested as a biochemical cause of Leigh's disease (LD). To evaluate this hypothesis, PC activity was measured in liver, fibroblasts, and brain from patients with LD. In no patient was such a deficiency documented. Review of patients in whom LD and PC deficiency has been associated suggests that the tissues studied were frequently inadequately preserved. It is proposed that LD and PC deficiency are distinct entities.