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in this case, individuals show a limited or generalized deficiency of GSH and an accumulation of 5-oxoproline (in blood and cerebrospinal fluid) leading to metabolic acidosis [43], mental retardation, neuropsychiatric dysfunction, spinocerebellar degeneration, peripheral neuropathy, myopathy, hepato-splenomegaly, hemolytic anemia, aminoaciduria, and severe neurological complications [134]