3-Phosphoglycerate dehydrogenase deficiency

(PHGDH deficiency)

Type

Disease
External link(s)
- IEMbase
Gene
- PHGDH / phosphoglycerate dehydrogenase
  1p12
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Phosphoglycerate dehydrogenase
Pathway
- Glycine and serine metabolism
Disease group(s)
- 1.6 Disorders of glycine and serine metabolism
Child entries
- 3-Phosphoglycerate dehydrogenase deficiency, infantile/juvenile form
- PHGDH-related Neu-Laxova syndrome