Glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to - CISMeF
Glutathione synthetase deficiency of erythrocytes, hemolytic anemia due toOMIM Phenotype
Preferred Label : Glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to;
Symbol : GSSDE;
CISMeF acronym : GSSDE;
Type : Phenotype, molecular basis known;
Description : Two forms of glutathione synthetase deficiency have been described; a mild form, referred
to as glutathione synthetase deficiency of erythrocytes, causing hemolytic anemia,
and a more severe form causing 5-oxoprolinuria with secondary neurologic involvement
(266130).;