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.

Albinism

An abnormal reduction in the amount of pigmentation (reduced or absent) of skin, hair and eye (iris and retina).


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PMID (PMCID)
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.