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

Authors

Sidish S Venkataraman
Rachel Regone
Hussam M Ammar
Rukma R Govindu

Publication Date

7-24-2019

Journal

Cureus

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