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

Pyroglutamic Acidemia: An Underrecognized and Underdiagnosed Cause of High Anion Gap Metabolic Acidosis - A Case Report and Review of Literature. - 2019

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. Copyright (c) 2019, Venkataraman et al.


English

2168-8184

10.7759/cureus.5229 [doi] PMC6758980 [pmc]


IN PROCESS -- NOT YET INDEXED


MedStar Washington Hospital Center M


Medicine/Internal Medicine


Case Reports

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