glutathione synthetase deficiency of erythrocytes

Term ID

DOID:0112252

Synonyms

• glutathione synthetase deficiency without 5-oxoprolinuria

Definition

A glutathione synthetase deficiency characterized by hemolytic anemia and deficiency in GSH that is limited to the red blood cells, with nucleated cells able to maintain normal or near normal expression levels that has_material_basis_in homozygous or compound heterozygous mutation in GSS on chromosome 20q11.22. (3)

References

• OMIM:231900
• ORDO:289849

Ontology

Human Disease   ( DOID:0112252 )