D-glycerate dehydrogenase deficiency

Rare autosomal recessive human diseases

D-glycerate dehydrogenase deficiency 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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