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Pyroglutamic acidemia in an adult patient
M H Creer1, B W Lau, J D Jones
1Department of Pathology, Washington University School of Medicine, St. Louis, MO 63110.
Insights
Pyroglutamic acidemia, a rare metabolic disorder, can occur in adults. This case highlights high pyroglutamate levels causing metabolic acidosis in a 52-year-old woman, expanding the known clinical spectrum.
Area of Science:
- Biochemistry
- Clinical Medicine
- Genetics
Background:
- Pyroglutamic acidemia is a rare metabolic disorder typically presenting in infancy.
- It is characterized by glutathione synthetase deficiency, leading to neurological and hematological issues.
- The condition is inherited as an autosomal recessive trait, though heterozygotes may show clinical signs.
Observation:
- An unusual case of high-anion-gap metabolic acidosis in a 52-year-old woman is presented.
- The patient exhibited neurological complaints and breathing difficulties but lacked typical congenital glutathione synthetase deficiency features.
- Other common causes of metabolic acidosis were ruled out.
Findings:
- High concentrations of pyroglutamate (5-oxoproline) were detected in the patient's plasma and urine.
- Elevated pyroglutamate levels persisted throughout the hospitalization.
- This suggests a non-congenital or atypical presentation of pyroglutamic acidemia.
Implications:
- This case expands the known clinical presentation of pyroglutamic acidemia to include adult-onset disease.
- It underscores the importance of considering pyroglutamic acidemia in adult patients with unexplained metabolic acidosis.
- Further research may clarify the mechanisms and genetic factors contributing to adult-onset presentations.
Abstract:
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.