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, de Azevedo, Ana Luiza Tainski, Chakr, Valentina
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Clinical and Biomedical Research
Texto Completo: https://seer.ufrgs.br/index.php/hcpa/article/view/57714
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.
id UFRGS-20_2fa8722c1ca5575cf1b492aa08cf86fe
oai_identifier_str oai:seer.ufrgs.br:article/57714
network_acronym_str UFRGS-20
network_name_str Clinical and Biomedical Research
repository_id_str
spelling Case report of acquired pyroglutamic acidemia in a pediatric patientglutathione synthetase deficiency5-oxoprolinemiapyroglutamic acidemiametabolic acidosisPyroglutamic 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.HCPA/FAMED/UFRGS2015-09-15info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionPeer-reviewed ArticleAvaliado por paresapplication/pdfhttps://seer.ufrgs.br/index.php/hcpa/article/view/57714Clinical & Biomedical Research; Vol. 35 No. 3 (2015): Clinical and Biomedical ResearchClinical and Biomedical Research; v. 35 n. 3 (2015): Clinical and Biomedical Research2357-9730reponame:Clinical and Biomedical Researchinstname:Universidade Federal do Rio Grande do Sul (UFRGS)instacron:UFRGSenghttps://seer.ufrgs.br/index.php/hcpa/article/view/57714/pdf_23Bischoff, Adrianne RahdeDornelles, Alícia Dornelesde Azevedo, Ana Luiza TainskiChakr, Valentinainfo:eu-repo/semantics/openAccess2024-01-19T14:26:16Zoai:seer.ufrgs.br:article/57714Revistahttps://www.seer.ufrgs.br/index.php/hcpaPUBhttps://seer.ufrgs.br/index.php/hcpa/oai||cbr@hcpa.edu.br2357-97302357-9730opendoar:2024-01-19T14:26:16Clinical and Biomedical Research - Universidade Federal do Rio Grande do Sul (UFRGS)false
dc.title.none.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
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
de Azevedo, Ana Luiza Tainski
Chakr, Valentina
author_role author
author2 Dornelles, Alícia Dorneles
de Azevedo, Ana Luiza Tainski
Chakr, Valentina
author2_role author
author
author
dc.contributor.author.fl_str_mv Bischoff, Adrianne Rahde
Dornelles, Alícia Dorneles
de Azevedo, Ana Luiza Tainski
Chakr, Valentina
dc.subject.por.fl_str_mv glutathione synthetase deficiency
5-oxoprolinemia
pyroglutamic acidemia
metabolic acidosis
topic 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.none.fl_str_mv 2015-09-15
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
Peer-reviewed Article
Avaliado por pares
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv https://seer.ufrgs.br/index.php/hcpa/article/view/57714
url https://seer.ufrgs.br/index.php/hcpa/article/view/57714
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv https://seer.ufrgs.br/index.php/hcpa/article/view/57714/pdf_23
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv HCPA/FAMED/UFRGS
publisher.none.fl_str_mv HCPA/FAMED/UFRGS
dc.source.none.fl_str_mv Clinical & Biomedical Research; Vol. 35 No. 3 (2015): Clinical and Biomedical Research
Clinical and Biomedical Research; v. 35 n. 3 (2015): Clinical and Biomedical Research
2357-9730
reponame:Clinical and Biomedical Research
instname:Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS
instname_str Universidade Federal do Rio Grande do Sul (UFRGS)
instacron_str UFRGS
institution UFRGS
reponame_str Clinical and Biomedical Research
collection Clinical and Biomedical Research
repository.name.fl_str_mv Clinical and Biomedical Research - Universidade Federal do Rio Grande do Sul (UFRGS)
repository.mail.fl_str_mv ||cbr@hcpa.edu.br
_version_ 1799767053742112768

Registros relacionados