Glutathione synthetase deficiency

A rare disorder characterised by hemolytic anemia, associated with metabolic acidosis and 5-oxoprolinuria in moderate forms, and with progressive neurological symptoms and recurrent bacterial infections in the most severe forms.

Hemolytic anemia

A type of anemia caused by premature destruction of red blood cells (hemolysis).


Total: 6

                       


(per page)
PMID (PMCID)
28267090
 FEMALE Infant, Newborn
A Rare Cause of Neonatal Hemolytic Anemia: Glutathione Synthetase Deficiency.
Soylu Ustkoyuncu P, Mutlu FT, Kiraz A, Tag Balkis Z, Yel S.
J Pediatr Hematol Oncol. 2018;40(1):e45-e49.
A Rare Cause of Neonatal Hemolytic Anemia: Glutathione Synthetase Deficiency.
28267090
 FEMALE Infant, Newborn
A Rare Cause of Neonatal Hemolytic Anemia: Glutathione Synthetase Deficiency.
Soylu Ustkoyuncu P, Mutlu FT, Kiraz A, Tag Balkis Z, Yel S.
J Pediatr Hematol Oncol. 2018;40(1):e45-e49.
Isolated hemolysis or hemolytic anemia and 5-oxoprolinuria are 2 distinct medical conditions in the clinical spectrum associated with glutathione synthetase deficiency.
26984560
(4961564)
 FEMALE Infant
Nineteen-year follow-up of a patient with severe glutathione synthetase deficiency.
Atwal PS, Medina CR, Burrage LC, Sutton VR.
J Hum Genet. 2016;61(7):669-72.
Patients with glutathione synthetase deficiency typically present in the neonatal period with hemolytic anemia, metabolic acidosis and neurological impairment.
27581854
 MALE Infant, Newborn
Recurrent Isolated Neonatal Hemolytic Anemia: Think About Glutathione Synthetase Deficiency.
Signolet I, Chenouard R, Oca F, Barth M, Reynier P, Denis MC, Simard G.
Pediatrics. 2016;138(3):.
Recurrent Isolated Neonatal Hemolytic Anemia: Think About Glutathione Synthetase Deficiency.
8634459
 MIXED_SAMPLE Child
Three cases of hereditary nonspherocytic hemolytic anemia associated with red blood cell glutathione deficiency.
Hirono A, Iyori H, Sekine I, Ueyama J, Chiba H, Kanno H, Fujii H, Miwa S.
Blood. 1996;87(5):2071-4.
Hemolytic anemia was their only manifestation, and neither 5-oxoprolinemia nor 5-oxoprolinuria, which are usually associated with to generalized type of glutathione synthetase deficiency, was noted in our patients.
6882923
 MALE Infant
Hemolytic anemia, recurrent metabolic acidosis, and incomplete albinism associated with glutathione synthetase deficiency.
Prchal JT, Crist WM, Roper M, Wellner VP.
Blood. 1983;62(4):754-7.
Hemolytic anemia, recurrent metabolic acidosis, and incomplete albinism associated with glutathione synthetase deficiency.