Pyruvate Carboxylase Deficiency: An Alleged Biochemical Cause of Leigh's Disease
- 1 September 1981
- journal article
- research article
- Published by American Academy of Pediatrics (AAP) in Pediatrics
- Vol. 68 (3) , 401-404
- https://doi.org/10.1542/peds.68.3.401
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.Keywords
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