Case report of acquired pyroglutamic acidemia in a pediatric patient

Detalhes bibliográficos
Autor(a) principal: Bischoff, Adrianne Rahde
Data de Publicação: 2015
Outros Autores: Dornelles, Alícia Dorneles, Azevedo, Ana Luiza, Chakr, Valentina Coutinho Baldoto Gava
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Institucional da UFRGS
Texto Completo: http://hdl.handle.net/10183/158306
Resumo: Pyroglutamic acid (also known as 5-oxoproline) is an organic acid intermediate of the gamma-glutamyl cycle. Accumulation of pyroglutamic acid is a rare cause of high anion gap metabolic acidosis. In the pediatric population, the congenital form of pyroglutamic acidemia has been extensively described. However, there are scarce reports of the acquired form of this condition in children. The urine test for organic acids confirms the diagnosis of pyroglutamic acidemia. We report the case of a 16-month-old girl who developed transient 5-oxoprolinemia associated with malnutrition and the use of acetaminophen and ampicillin for the treatment of acute otitis media and abdominal pain. The patient received 21-hour course of n-acetylcysteine with improvement of metabolic acidosis. This report highligts the need of considering pyroglutamic acidemia in the differencial diagnosis for high anion gap metabolic acidosis in pediatric patients with malnutrition and other risk factors.
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spelling Bischoff, Adrianne RahdeDornelles, Alícia DornelesAzevedo, Ana LuizaChakr, Valentina Coutinho Baldoto Gava2017-05-20T02:43:14Z20152357-9730http://hdl.handle.net/10183/158306001002123Pyroglutamic acid (also known as 5-oxoproline) is an organic acid intermediate of the gamma-glutamyl cycle. Accumulation of pyroglutamic acid is a rare cause of high anion gap metabolic acidosis. In the pediatric population, the congenital form of pyroglutamic acidemia has been extensively described. However, there are scarce reports of the acquired form of this condition in children. The urine test for organic acids confirms the diagnosis of pyroglutamic acidemia. We report the case of a 16-month-old girl who developed transient 5-oxoprolinemia associated with malnutrition and the use of acetaminophen and ampicillin for the treatment of acute otitis media and abdominal pain. The patient received 21-hour course of n-acetylcysteine with improvement of metabolic acidosis. This report highligts the need of considering pyroglutamic acidemia in the differencial diagnosis for high anion gap metabolic acidosis in pediatric patients with malnutrition and other risk factors.application/pdfengClinical and biomedical research. Porto Alegre. Vol. 35, n. 3 (2015), p. 163-166AcidoseMetabolismoPediatriaGlutathione synthetase deficiency5-oxoprolinemiaPyroglutamic acidemiaMetabolic acidosisCase report of acquired pyroglutamic acidemia in a pediatric patientinfo:eu-repo/semantics/articleinfo:eu-repo/semantics/otherinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da UFRGSinstname:Universidade Federal do Rio Grande do Sul (UFRGS)instacron:UFRGSORIGINAL001002123.pdf001002123.pdfTexto completo (inglês)application/pdf782308http://www.lume.ufrgs.br/bitstream/10183/158306/1/001002123.pdfa2ad5408c5ce0d1492769257b62763dcMD51TEXT001002123.pdf.txt001002123.pdf.txtExtracted Texttext/plain15486http://www.lume.ufrgs.br/bitstream/10183/158306/2/001002123.pdf.txt26d0b1f3f677d221919f3ccc90a1c1ddMD52THUMBNAIL001002123.pdf.jpg001002123.pdf.jpgGenerated Thumbnailimage/jpeg1806http://www.lume.ufrgs.br/bitstream/10183/158306/3/001002123.pdf.jpg8a16b6b697bfb831cbdb89c86e4ee374MD5310183/1583062023-11-22 04:30:50.922105oai:www.lume.ufrgs.br:10183/158306Repositório de PublicaçõesPUBhttps://lume.ufrgs.br/oai/requestopendoar:2023-11-22T06:30:50Repositório Institucional da UFRGS - Universidade Federal do Rio Grande do Sul (UFRGS)false
dc.title.pt_BR.fl_str_mv Case report of acquired pyroglutamic acidemia in a pediatric patient
title Case report of acquired pyroglutamic acidemia in a pediatric patient
spellingShingle Case report of acquired pyroglutamic acidemia in a pediatric patient
Bischoff, Adrianne Rahde
Acidose
Metabolismo
Pediatria
Glutathione synthetase deficiency
5-oxoprolinemia
Pyroglutamic acidemia
Metabolic acidosis
title_short Case report of acquired pyroglutamic acidemia in a pediatric patient
title_full Case report of acquired pyroglutamic acidemia in a pediatric patient
title_fullStr Case report of acquired pyroglutamic acidemia in a pediatric patient
title_full_unstemmed Case report of acquired pyroglutamic acidemia in a pediatric patient
title_sort Case report of acquired pyroglutamic acidemia in a pediatric patient
author Bischoff, Adrianne Rahde
author_facet Bischoff, Adrianne Rahde
Dornelles, Alícia Dorneles
Azevedo, Ana Luiza
Chakr, Valentina Coutinho Baldoto Gava
author_role author
author2 Dornelles, Alícia Dorneles
Azevedo, Ana Luiza
Chakr, Valentina Coutinho Baldoto Gava
author2_role author
author
author
dc.contributor.author.fl_str_mv Bischoff, Adrianne Rahde
Dornelles, Alícia Dorneles
Azevedo, Ana Luiza
Chakr, Valentina Coutinho Baldoto Gava
dc.subject.por.fl_str_mv Acidose
Metabolismo
Pediatria
topic Acidose
Metabolismo
Pediatria
Glutathione synthetase deficiency
5-oxoprolinemia
Pyroglutamic acidemia
Metabolic acidosis
dc.subject.eng.fl_str_mv Glutathione synthetase deficiency
5-oxoprolinemia
Pyroglutamic acidemia
Metabolic acidosis
description Pyroglutamic acid (also known as 5-oxoproline) is an organic acid intermediate of the gamma-glutamyl cycle. Accumulation of pyroglutamic acid is a rare cause of high anion gap metabolic acidosis. In the pediatric population, the congenital form of pyroglutamic acidemia has been extensively described. However, there are scarce reports of the acquired form of this condition in children. The urine test for organic acids confirms the diagnosis of pyroglutamic acidemia. We report the case of a 16-month-old girl who developed transient 5-oxoprolinemia associated with malnutrition and the use of acetaminophen and ampicillin for the treatment of acute otitis media and abdominal pain. The patient received 21-hour course of n-acetylcysteine with improvement of metabolic acidosis. This report highligts the need of considering pyroglutamic acidemia in the differencial diagnosis for high anion gap metabolic acidosis in pediatric patients with malnutrition and other risk factors.
publishDate 2015
dc.date.issued.fl_str_mv 2015
dc.date.accessioned.fl_str_mv 2017-05-20T02:43:14Z
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dc.identifier.issn.pt_BR.fl_str_mv 2357-9730
dc.identifier.nrb.pt_BR.fl_str_mv 001002123
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dc.language.iso.fl_str_mv eng
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dc.relation.ispartof.pt_BR.fl_str_mv Clinical and biomedical research. Porto Alegre. Vol. 35, n. 3 (2015), p. 163-166
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