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Clinical Chemistry 35: 684-686, 1989;
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Clinical Chemistry, Vol 35, 684-686, Copyright © 1989 by American Association for Clinical Chemistry

Pyroglutamic acidemia in an adult patient

MH Creer, BW Lau, JD Jones and KM Chan
Department of Pathology, Washington University School of Medicine, St. Louis, MO 63110.

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. This disease is inherited as an autosomal recessive trait, but the clinical condition is also detected in heterozygotes. We report an unusual case of high-anion-gap metabolic acidosis in a 52-year-old woman who was admitted with neurological complaints and breathing problems but without the characteristic clinical features of congenital glutathione synthetase deficiency. 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.


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