Pyroglutamic Acidemia: An Underrecognized and Underdiagnosed Cause of High Anion Gap Metabolic Acidosis - A Case Report and Review of Literature

Sidish S Venkataraman; Rachel Regone; Hussam M Ammar; Rukma R Govindu

doi:10.7759/cureus.5229

Pyroglutamic Acidemia: An Underrecognized and Underdiagnosed Cause of High Anion Gap Metabolic Acidosis - A Case Report and Review of Literature

Cureus. 2019 Jul 24;11(7):e5229. doi: 10.7759/cureus.5229.

Authors

Sidish S Venkataraman¹, Rachel Regone², Hussam M Ammar³, Rukma R Govindu⁴

Affiliations

¹ Neurological Surgery, Wake Forest University Baptist Medical Center, Winston-Salem, USA.
² Otolaryngology, Kelsey-Seybold Clinic, Cypress, USA.
³ Internal Medicine, Medstar Washington Hospital Center, Washington, USA.
⁴ Internal Medicine, The University of Texas Health Science Center at Houston, Houston, USA.

Abstract

Pyroglutamic acidemia (oxoprolinemia) is an underrecognized cause of high anion gap acidosis resulting from derangement in the gamma-glutamyl cycle. Pyroglutamic acidemia is most commonly diagnosed in the pediatric population in patients with inherited autosomal recessive enzyme deficiencies. However, acquired pyroglutamic acidemia can present in the adult population. Patients often present with confusion, nausea, and vomiting as well as an elevated anion gap metabolic acidosis. This article describes a case of acquired pyroglutamic acidemia and emphasizes the need to consider this entity.

Keywords: 5-oxoproline; anion gap; gamma-glutamyl cycle; metabolic acidosis; mudpiles; pyroglutamic acidemia.

Publication types

Case Reports