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

MedStar author(s):
Citation: Cureus. 11(7):e5229, 2019 Jul 24.PMID: 31565630Institution: MedStar Washington Hospital Center MDepartment: Medicine/Internal MedicineForm of publication: Journal ArticleMedline article type(s): Case ReportsSubject headings: IN PROCESS -- NOT YET INDEXEDYear: 2019ISSN:
  • 2168-8184
Name of journal: CureusAbstract: 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.All authors: Ammar HM, Govindu RR, Regone R, Venkataraman SSFiscal year: FY2020Digital Object Identifier: Date added to catalog: 2019-10-14
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Journal Article MedStar Authors Catalog Article 31565630 Available 31565630

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.

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