The FDA has accepted for Priority Review the NDA for SL1009 to treat pyruvate dehydrogenase complex deficiency.

All 3 patients with the pyruvate kinase deficiency were found to have elevated values for erythrocyte glucose-6-phosphate dehydrogenase, phosphoglycerate kinase and acid phosphatase.

Pyruvate kinase deficiency is the most frequent abnormality of the glycolytic pathway and, together with a deficiency in glucose-6-phosphate dehydrogenase (G6PD), is the most common cause of ...

Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) results in lactic acidosis and hyperpyruvatemia. Two patients with PDHAD, a man with a p.R263Q mutation, and a girl with a p.C145del mutation in ...

Just before she turned one, Harlow was diagnosed with Pyruvate Dehydrogenase Complex Deficiency, commonly called PDCD.

Indications: Pyruvate dehydrogenase complex deficiency, typically associated with post-prandial lactic acidemia with a normal lactate/pyruvate ratio, can be assayed in freshly isolated blood ...

A lactate/pyruvate ratio less than 25 suggests pyruvate dehydrogenase deficiency (PDH) or other disorders of pyruvate metabolism, whereas a ratio greater than 25 suggests a respiratory chain ...

DCA is a targeted therapy that inhibits Pyruvate Dehydrogenase Kinase (PDK) to stimulate residual Pyruvate Dehydrogenase Complex (PDC) activity and increase energy (ATP) production by mitochondria.

Thiamine is a cofactor of several enzymes, including transketolase, pyruvate dehydrogenase, and alpha-ketoglutarate dehydrogenase.

Primary Pyruvate Dehydrogenase Complex Deficiency Overview. 2021 Jun 17. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet].

Primary Pyruvate Dehydrogenase Complex Deficiency Overview. 2021 Jun 17. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet].