PHGDH or 3-phosphoglycerate dehydrogenase is an enzyme belonging to the D-isomer specific 2-hydroxyacid dehydrogenase family. It catalysis the reaction 3-phosphoglycerate + NAD+ = 3-phosphonooxypyruvate + NADH during L-serine biosynthesis. Defects in PHGDH are the cause of phosphoglycerate dehydrogenase deficiency (PHGDH deficiency). It is characterized by congenital microcephaly, psychomotor retardation and seizures.
[1] "Nucleotide sequence and differential expression of the human 3-phosphoglycerate dehydrogenase gene."Cho H.M., Jun D.Y., Bae M.A., Ahn J.D., Kim Y.H.Gene 245:193-201(2000) [2] "Molecular characterization of 3-phosphoglycerate dehyd