" /> Anemia, congenital, nonspherocytic hemolytic, 6 - CISMeF





Preferred Label : Anemia, congenital, nonspherocytic hemolytic, 6;

Symbol : CNSHA6;

CISMeF acronym : GSSDE;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : GSSDE; Glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to;

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).;

Inheritance : Autosomal recessive;

Prefixed ID : #231900;

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05/05/2025


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