Gamma-glutamylcysteine synthetase deficiency
Gamma-glutamylcysteine synthetase deficiency
Definition
A disorder that is principally characterized by hemolytic anemia, (usually rather mild), however, the presence of neurological symptoms has also been reported.
Also known as anemia, congenital, nonspherocytic hemolytic, 7, gamma-glutamylcysteine synthetase deficiency, hemolytic anaemia due to, gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to, glutamate-cysteine ligase deficiency, hemolytic anaemia due to gamma-glutamylcysteine synthetase deficiency, inborn error of glutamate-cysteine ligase activity, inborn glutamate-cysteine ligase activity disorder, rare inborn error of glutamate-cysteine ligase activity — per MONDO