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Gamma-glutamylcysteine synthetase deficiency Disease name and synonyms Gamma-glutamylcysteine synthetase deficiency (OMIM #230450) Glutamate-cysteine ligase deficiency Definition and diagnostic criteria Gamma-glutamylcysteine synthetase deficiency is a very rare autosomal recessive disease characterized by hemolytic anemia, and, in some cases, by neurological symptoms

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Initially, the adrenal glands attempt to deal with the effects of stress

Case 4 : NAC 2400 mg/day helped resolve severe skin-picking, though overall irritability remained stable (ABC-I: 37 to 36)

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