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.

Metabolic acidosis

Acid accumulation or depletion of base in the body due to buildup of metabolic acids.


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PMID (PMCID)
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.
15519833
 FEMALE Infant, Newborn
[Gluthathion synthetase deficit in a newborn infant].
Fily A, Vaillant C, Truffert P, Rouland V, Dobbelaere D, Kacet N.
Arch Pediatr. 2004;11(11):1339-41.
We report an observation of a triplet newborn presenting with haemolysis, metabolic acidosis with no lactic acidosis revealing a glutathione synthetase deficiency.
2702756
 FEMALE Middle Aged
Pyroglutamic acidemia in an adult patient.
Creer MH, Lau BW, Jones JD, Chan KM.
Clin Chem. 1989;35(4):684-6.
We report an unusual case of high-anion-gap metabolic acidosis in a 52-year-old woman who was admitted with neurological complaints and breathing problems but without the characteristic clinical features of congenital glutathione synthetase deficiency.
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.