Phosphoserine aminotransferase deficiency

(PSAT1 deficiency)

Type

Disease
External link(s)
- IEMbase
Gene
- PSAT1 / phosphoserine aminotransferase 1
  9q21.2
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Phosphoserine aminotransferase
Pathway
- Glycine and serine metabolism
Disease group(s)
- 1.6 Disorders of glycine and serine metabolism
Child entries
- Phosphoserine aminotransferase deficiency, infantile/juvenile form
- PSAT1-related Neu-Laxova syndrome