Glutathione synthetase deficiency

(GSS deficiency)

Type

Disease
External link(s)
Gene
- GSS / Glutathione Synthetase
  20q11.22
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Glutathione synthetase
Pathway
- Glutathione metabolism
Disease group(s)
- 2.1 Disorders of glutathione metabolism
Child entries
- Glutathione synthetase deficiency with 5-oxoprolinuria
- Glutathione synthetase deficiency without 5-oxoprolinuria