Clinical and Genetic Characterization and Biochemical Correlation at Presentation in 48 Patients Diagnosed with Urea Cycle Disorders at the Hospital Juan P Garrahan, Argentina
Main Author: | |
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Publication Date: | 2021 |
Other Authors: | , , |
Format: | Article |
Language: | eng |
Source: | Journal of Inborn Errors of Metabolism and Screening |
Download full: | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942021000100320 |
Summary: | Abstract The clinical and biochemical findings in a cohort of 51 patients with urea cycle disorders followed at the Hospital Garrahan, Buenos Aires, Argentina were analyzed at the time of diagnosis (3 female patients were excluded). Of this cohort, 13/48 patients had early-onset (EO), 23/48 had late-onset (LO), and 12/48 had a different presentation because they had a family risk background (FRB) and had been diagnosed since they were born. The most frequent deficiency disorder was OTCD (65%). The initial ammonium value was evaluated, being higher in the EO group, with a statistically significant difference when compared with LO and FRB. 15/48 patients fell into a coma at the time of diagnosis, mean ammonia was 829.54 μmol / L, and 33/48 did not fell into a coma, the mean ammonium was of 159.3 μmol / L (p = 0.001). 15 patients died: 62% EO, 22% LO (p=0.0216), 17% FRB. A molecular study was performed on 35 patients. Patients with EO presentation suffer the most severe forms and still have high morbimortality. On the other hand, LO forms are forms of less severity that are finally diagnosed as a result of one or more acute episodes. |
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Clinical and Genetic Characterization and Biochemical Correlation at Presentation in 48 Patients Diagnosed with Urea Cycle Disorders at the Hospital Juan P Garrahan, ArgentinaUrea cycle disorderearly onsetlate onsetfamily backgroundAbstract The clinical and biochemical findings in a cohort of 51 patients with urea cycle disorders followed at the Hospital Garrahan, Buenos Aires, Argentina were analyzed at the time of diagnosis (3 female patients were excluded). Of this cohort, 13/48 patients had early-onset (EO), 23/48 had late-onset (LO), and 12/48 had a different presentation because they had a family risk background (FRB) and had been diagnosed since they were born. The most frequent deficiency disorder was OTCD (65%). The initial ammonium value was evaluated, being higher in the EO group, with a statistically significant difference when compared with LO and FRB. 15/48 patients fell into a coma at the time of diagnosis, mean ammonia was 829.54 μmol / L, and 33/48 did not fell into a coma, the mean ammonium was of 159.3 μmol / L (p = 0.001). 15 patients died: 62% EO, 22% LO (p=0.0216), 17% FRB. A molecular study was performed on 35 patients. Patients with EO presentation suffer the most severe forms and still have high morbimortality. On the other hand, LO forms are forms of less severity that are finally diagnosed as a result of one or more acute episodes.Latin American Society Inborn Errors and Neonatal Screening (SLEIMPN); Instituto Genética para Todos (IGPT)2021-01-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942021000100320Journal of Inborn Errors of Metabolism and Screening v.9 2021reponame:Journal of Inborn Errors of Metabolism and Screeninginstname:Instituto Genética para Todos (IGPT)instacron:IGPT10.1590/2326-4594-jiems-2020-0026info:eu-repo/semantics/openAccessBernal,Ana ClaraTubio,Maria CruzCrespo,CarolinaEiroa,Hernán Diegoeng2021-08-02T00:00:00Zoai:scielo:S2326-45942021000100320Revistahttp://jiems-journal.org/ONGhttps://old.scielo.br/oai/scielo-oai.phpjiems@jiems-journal.org||rgiugliani@hcpa.edu.br2326-45942326-4594opendoar:2021-08-02T00:00Journal of Inborn Errors of Metabolism and Screening - Instituto Genética para Todos (IGPT)false |
dc.title.none.fl_str_mv |
Clinical and Genetic Characterization and Biochemical Correlation at Presentation in 48 Patients Diagnosed with Urea Cycle Disorders at the Hospital Juan P Garrahan, Argentina |
title |
Clinical and Genetic Characterization and Biochemical Correlation at Presentation in 48 Patients Diagnosed with Urea Cycle Disorders at the Hospital Juan P Garrahan, Argentina |
spellingShingle |
Clinical and Genetic Characterization and Biochemical Correlation at Presentation in 48 Patients Diagnosed with Urea Cycle Disorders at the Hospital Juan P Garrahan, Argentina Bernal,Ana Clara Urea cycle disorder early onset late onset family background |
title_short |
Clinical and Genetic Characterization and Biochemical Correlation at Presentation in 48 Patients Diagnosed with Urea Cycle Disorders at the Hospital Juan P Garrahan, Argentina |
title_full |
Clinical and Genetic Characterization and Biochemical Correlation at Presentation in 48 Patients Diagnosed with Urea Cycle Disorders at the Hospital Juan P Garrahan, Argentina |
title_fullStr |
Clinical and Genetic Characterization and Biochemical Correlation at Presentation in 48 Patients Diagnosed with Urea Cycle Disorders at the Hospital Juan P Garrahan, Argentina |
title_full_unstemmed |
Clinical and Genetic Characterization and Biochemical Correlation at Presentation in 48 Patients Diagnosed with Urea Cycle Disorders at the Hospital Juan P Garrahan, Argentina |
title_sort |
Clinical and Genetic Characterization and Biochemical Correlation at Presentation in 48 Patients Diagnosed with Urea Cycle Disorders at the Hospital Juan P Garrahan, Argentina |
author |
Bernal,Ana Clara |
author_facet |
Bernal,Ana Clara Tubio,Maria Cruz Crespo,Carolina Eiroa,Hernán Diego |
author_role |
author |
author2 |
Tubio,Maria Cruz Crespo,Carolina Eiroa,Hernán Diego |
author2_role |
author author author |
dc.contributor.author.fl_str_mv |
Bernal,Ana Clara Tubio,Maria Cruz Crespo,Carolina Eiroa,Hernán Diego |
dc.subject.por.fl_str_mv |
Urea cycle disorder early onset late onset family background |
topic |
Urea cycle disorder early onset late onset family background |
description |
Abstract The clinical and biochemical findings in a cohort of 51 patients with urea cycle disorders followed at the Hospital Garrahan, Buenos Aires, Argentina were analyzed at the time of diagnosis (3 female patients were excluded). Of this cohort, 13/48 patients had early-onset (EO), 23/48 had late-onset (LO), and 12/48 had a different presentation because they had a family risk background (FRB) and had been diagnosed since they were born. The most frequent deficiency disorder was OTCD (65%). The initial ammonium value was evaluated, being higher in the EO group, with a statistically significant difference when compared with LO and FRB. 15/48 patients fell into a coma at the time of diagnosis, mean ammonia was 829.54 μmol / L, and 33/48 did not fell into a coma, the mean ammonium was of 159.3 μmol / L (p = 0.001). 15 patients died: 62% EO, 22% LO (p=0.0216), 17% FRB. A molecular study was performed on 35 patients. Patients with EO presentation suffer the most severe forms and still have high morbimortality. On the other hand, LO forms are forms of less severity that are finally diagnosed as a result of one or more acute episodes. |
publishDate |
2021 |
dc.date.none.fl_str_mv |
2021-01-01 |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942021000100320 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942021000100320 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
10.1590/2326-4594-jiems-2020-0026 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
text/html |
dc.publisher.none.fl_str_mv |
Latin American Society Inborn Errors and Neonatal Screening (SLEIMPN); Instituto Genética para Todos (IGPT) |
publisher.none.fl_str_mv |
Latin American Society Inborn Errors and Neonatal Screening (SLEIMPN); Instituto Genética para Todos (IGPT) |
dc.source.none.fl_str_mv |
Journal of Inborn Errors of Metabolism and Screening v.9 2021 reponame:Journal of Inborn Errors of Metabolism and Screening instname:Instituto Genética para Todos (IGPT) instacron:IGPT |
instname_str |
Instituto Genética para Todos (IGPT) |
instacron_str |
IGPT |
institution |
IGPT |
reponame_str |
Journal of Inborn Errors of Metabolism and Screening |
collection |
Journal of Inborn Errors of Metabolism and Screening |
repository.name.fl_str_mv |
Journal of Inborn Errors of Metabolism and Screening - Instituto Genética para Todos (IGPT) |
repository.mail.fl_str_mv |
jiems@jiems-journal.org||rgiugliani@hcpa.edu.br |
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1754732520268627968 |