/gamma-glutamylcysteine synthetase deficiency

gamma-glutamylcysteine synthetase deficiency

Rare Disease

MONDO:0009259

Also Known As

anemia, congenital, nonspherocytic hemolytic, 7gamma-glutamylcysteine synthetase deficiency, hemolytic anaemia due togamma-glutamylcysteine synthetase deficiency, hemolytic anemia due toglutamate-cysteine ligase deficiencyhemolytic anaemia due to gamma-glutamylcysteine synthetase deficiencyhemolytic anemia due to gamma-glutamylcysteine synthetase deficiencyinborn error of glutamate-cysteine ligase activityinborn glutamate-cysteine ligase activity disorderrare inborn error of glutamate-cysteine ligase activity

Definition

A disorder that is principally characterized by hemolytic anemia, (usually rather mild), however, the presence of neurological symptoms has also been reported.