Phosphoglycerate Dehydrogenase Deficiency

About the Disease
Phosphoglycerate Dehydrogenase Deficiency, also known as phgdh deficiency, is related to neu-laxova syndrome 1 and serine deficiency, and has symptoms including seizures An important gene associated with Phosphoglycerate Dehydrogenase Deficiency is PHGDH (Phosphoglycerate Dehydrogenase), and among its related pathways/superpathways are Neuroinflammation and glutamatergic signaling and One-carbon metabolism and related pathways. Affiliated tissues include brain, testes and bone marrow, and related phenotypes are hyposerinemia and hypoglycinemia

Common Targets
KANSL1 | PHGDH

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