D-glycerate dehydrogenase deficiency
D-glycerate dehydrogenase deficiency or PHGDH is a rare autosomal metabolic disease where the young patient is unable to produce an enzyme necessary to convert 3-phosphoglycerate into 3-phosphohydroxypyruvate, which is the only way for humans to synthesize serine.This disorder is called Neu-Laxova syndrome in neonates.
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Autosomal recessive inheritance pattern
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Contributors: Prab R. Tumpati, MD
