Phosphoglycerate Dehydrogenase Deficiency (PHGDHD)

Alias:

Phgdh Deficiency

3-Phosphoglycerate Dehydrogenase Deficiency

Phgdhd

3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/juvenile Form

Deficiency, Phosphoglycerate Dehydrogenase

Phgdh Deficiency, Infantile/juvenile Form

3-Pgdh Deficiency

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

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 Metabolism and glycolysis (BioCyc). Affiliated tissues include brain and testes, and related phenotypes are hyposerinemia and hypoglycinemia

Related ID：

MALACARDS：PHS021

OMIM：601815

MESH：C566618