Pyruvate Carboxylase Deficiency: An Alleged Biochemical Cause of Leigh's Disease
Copyright policy )Pyruvate Carboxylase Deficiency: An Alleged Biochemical Cause of Leigh's Disease
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.
- Children's Hospital of Wisconsin United States
- Medical College of Wisconsin United States
Brain, Citrate (si)-Synthase, Fibroblasts, Pyruvate Carboxylase Deficiency Disease, Encephalomalacia, Liver, Intellectual Disability, Humans, Psychomotor Disorders, Brain Stem
Brain, Citrate (si)-Synthase, Fibroblasts, Pyruvate Carboxylase Deficiency Disease, Encephalomalacia, Liver, Intellectual Disability, Humans, Psychomotor Disorders, Brain Stem
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