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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Severe deficiency results in a condition known as ariboflavinosis, which is characterized by a sore throat, inflamed tongue, anemia, as well as skin and eye problems
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