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Pyruvate carboxylase deficiency: mechanisms, mimics and anaplerosis.
Marin-Valencia I, Roe CR, Pascual JM. Marin-Valencia I, et al. Mol Genet Metab. 2010 Sep;101(1):9-17. doi: 10.1016/j.ymgme.2010.05.004. Epub 2010 Jun 9. Mol Genet Metab. 2010. PMID: 20598931 Review.
Pyruvate carboxylase (PC) is a regulated mitochondrial enzyme that catalyzes the conversion of pyruvate to oxaloacetate, a critical transition that replenishes citric acid cycle intermediates and facilitates other biosynthetic reactions that drive anabolism. …
Pyruvate carboxylase (PC) is a regulated mitochondrial enzyme that catalyzes the conversion of pyruvate to oxaloacetate …
Disorders of pyruvate metabolism.
De Meirleir L. De Meirleir L. Handb Clin Neurol. 2013;113:1667-73. doi: 10.1016/B978-0-444-59565-2.00034-4. Handb Clin Neurol. 2013. PMID: 23622387 Review.
Pyruvate dehydrogenase and pyruvate carboxylase deficiency are the most common disorders in pyruvate metabolism. ...Deficiencies in the other subunits have also been described, but in a smaller number of patients. Pyruvate carboxylase …
Pyruvate dehydrogenase and pyruvate carboxylase deficiency are the most common disorders in pyruvate meta …