Clinical chemistry
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Pyroglutamic acidemia, a rare metabolic disorder, usually appears in infancy. It is characterized by retardation, ataxia, hemolytic anemia, and chronic acidosis and is caused by a marked deficiency of glutathione synthetase (EC 6.3.2.3) activity. ⋯ The etiology of the acidosis could not be attributed to ketoacidosis, lactic acidosis, or ingestion of methanol, salicylate, or ethylene glycol. Analysis of the patient's plasma and urine for organic acids revealed the presence of high concentrations of pyroglutamate (5-oxoproline), which remained high throughout her hospitalization.