Clinical Characteristics of Pediatric Patients with Urea Cycle Disorders
Objective: Urea cycle disorders (UCDs) are inherited deficiencies of the enzymes or transport molecules involved in thecellular excretion of excess ammonia produced during protein metabolism. The aim of this study was to evaluate theclinical characteristics and long-term outcome of pediatric patient...
Published in: | Turkish Journal of Pediatric Disease |
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Format: | Article in Journal/Newspaper |
Language: | English |
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T.C. Sağlık Bakanlığı Ankara Şehir Hastanesi
2022
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Online Access: | https://dergipark.org.tr/tr/pub/tchd/issue/76265/1098695 https://doi.org/10.12956/tchd.1098695 |
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ftdergipark2ojs:oai:dergipark.org.tr:article/1098695 2023-05-15T18:12:59+02:00 Clinical Characteristics of Pediatric Patients with Urea Cycle Disorders Kliniğimizde Üre Döngüsü Bozukluğu Nedeniyle Takipli Olan Hastaların Klinik Özelliklerinin Değerlendirilmesi KASAPKARA, Çiğdem Seher OLGAC, Asburce KILIÇ, Mustafa HAEBERLE, Johannes 2022-04-05 application/pdf https://dergipark.org.tr/tr/pub/tchd/issue/76265/1098695 https://doi.org/10.12956/tchd.1098695 eng eng T.C. Sağlık Bakanlığı Ankara Şehir Hastanesi https://dergipark.org.tr/tr/download/article-file/2354140 https://dergipark.org.tr/tr/pub/tchd/issue/76265/1098695 doi:10.12956/tchd.1098695 Volume: 17, Issue: 2 101-105 1307-4490 2148-3566 Türkiye Çocuk Hastalıkları Dergisi Turkish Journal of Pediatric Disease hyperammonemia;neonatal;Inborn urea cycle disorders hiperamonyemi;yenidoğan;doğuştan üre döngüsü bozuklukları Genel ve Dahili Tıp General and Internal Medicine info:eu-repo/semantics/article 2022 ftdergipark2ojs https://doi.org/10.12956/tchd.1098695 2023-03-23T18:06:12Z Objective: Urea cycle disorders (UCDs) are inherited deficiencies of the enzymes or transport molecules involved in thecellular excretion of excess ammonia produced during protein metabolism. The aim of this study was to evaluate theclinical characteristics and long-term outcome of pediatric patients with UCDs.Material and Methods: Our research was conducted between September 2020-March 2021 in Dr. Sami UlusMaternity and Child Health Training and Research Hospital. Clinical characteristics in 16 patients with UCDs [carbamoylphosphate synthetase I deficiency (n=1), N-acetylglutamate synthase deficiency(n=1), argininosuccinate lyase deficiency(n=4), argininosuccinate synthetase deficiency (n=4), arginase deficiency (n=2), ornithine transcarbamylase deficiency(n=2), hyperammonemia hyperornithinemia homocitrullinuria syndrome (n=2)] were defined. The term “neonatal-onset”UCD was used if symptoms occurred within 28 days of life, and “late-onset” if symptoms started after the neonatalperiod.Results: Eight patients presented with acute metabolic crisis during newborn period. Core clinical phenotype inneonatal-onset UCDs included sepsis-like findings, whereas epilepsy and mental retardation was predominant in lateonsetUCDs. For patients with neonatal-onset UCDs, hyperammonemia was more severe at the initial period.Conclusion: Despite evolving treatment opportunities, still high mortality rates were found in neonatal-onset UCD. UCDsshould be suspected in pediatric patients with hyperammonemia and metabolic investigations should be performedimmediately to enlighten diagnosis. Neonatal-onset UCD usually present with symptoms of acute hyperammonemia, whilemoresubtle neurological manifestations are frequent initial findings in the late onset UCD. Amaç: Üre döngüsü bozuklukları (ÜDB’leri), protein metabolizması sonucunda üretilen amonyağın hücresel atılımındayer alan enzimlerin veya taşıyıcı moleküllerinin kalıtsal eksikliklerinden kaynaklanan doğumsal metabolik hastalıklardır. Buçalışmanın amacı, bölümümüzde ... Article in Journal/Newspaper sami DergiPark Akademik (E-Journals) Turkish Journal of Pediatric Disease 1 5 |
institution |
Open Polar |
collection |
DergiPark Akademik (E-Journals) |
op_collection_id |
ftdergipark2ojs |
language |
English |
topic |
hyperammonemia;neonatal;Inborn urea cycle disorders hiperamonyemi;yenidoğan;doğuştan üre döngüsü bozuklukları Genel ve Dahili Tıp General and Internal Medicine |
spellingShingle |
hyperammonemia;neonatal;Inborn urea cycle disorders hiperamonyemi;yenidoğan;doğuştan üre döngüsü bozuklukları Genel ve Dahili Tıp General and Internal Medicine KASAPKARA, Çiğdem Seher OLGAC, Asburce KILIÇ, Mustafa HAEBERLE, Johannes Clinical Characteristics of Pediatric Patients with Urea Cycle Disorders |
topic_facet |
hyperammonemia;neonatal;Inborn urea cycle disorders hiperamonyemi;yenidoğan;doğuştan üre döngüsü bozuklukları Genel ve Dahili Tıp General and Internal Medicine |
description |
Objective: Urea cycle disorders (UCDs) are inherited deficiencies of the enzymes or transport molecules involved in thecellular excretion of excess ammonia produced during protein metabolism. The aim of this study was to evaluate theclinical characteristics and long-term outcome of pediatric patients with UCDs.Material and Methods: Our research was conducted between September 2020-March 2021 in Dr. Sami UlusMaternity and Child Health Training and Research Hospital. Clinical characteristics in 16 patients with UCDs [carbamoylphosphate synthetase I deficiency (n=1), N-acetylglutamate synthase deficiency(n=1), argininosuccinate lyase deficiency(n=4), argininosuccinate synthetase deficiency (n=4), arginase deficiency (n=2), ornithine transcarbamylase deficiency(n=2), hyperammonemia hyperornithinemia homocitrullinuria syndrome (n=2)] were defined. The term “neonatal-onset”UCD was used if symptoms occurred within 28 days of life, and “late-onset” if symptoms started after the neonatalperiod.Results: Eight patients presented with acute metabolic crisis during newborn period. Core clinical phenotype inneonatal-onset UCDs included sepsis-like findings, whereas epilepsy and mental retardation was predominant in lateonsetUCDs. For patients with neonatal-onset UCDs, hyperammonemia was more severe at the initial period.Conclusion: Despite evolving treatment opportunities, still high mortality rates were found in neonatal-onset UCD. UCDsshould be suspected in pediatric patients with hyperammonemia and metabolic investigations should be performedimmediately to enlighten diagnosis. Neonatal-onset UCD usually present with symptoms of acute hyperammonemia, whilemoresubtle neurological manifestations are frequent initial findings in the late onset UCD. Amaç: Üre döngüsü bozuklukları (ÜDB’leri), protein metabolizması sonucunda üretilen amonyağın hücresel atılımındayer alan enzimlerin veya taşıyıcı moleküllerinin kalıtsal eksikliklerinden kaynaklanan doğumsal metabolik hastalıklardır. Buçalışmanın amacı, bölümümüzde ... |
format |
Article in Journal/Newspaper |
author |
KASAPKARA, Çiğdem Seher OLGAC, Asburce KILIÇ, Mustafa HAEBERLE, Johannes |
author_facet |
KASAPKARA, Çiğdem Seher OLGAC, Asburce KILIÇ, Mustafa HAEBERLE, Johannes |
author_sort |
KASAPKARA, Çiğdem Seher |
title |
Clinical Characteristics of Pediatric Patients with Urea Cycle Disorders |
title_short |
Clinical Characteristics of Pediatric Patients with Urea Cycle Disorders |
title_full |
Clinical Characteristics of Pediatric Patients with Urea Cycle Disorders |
title_fullStr |
Clinical Characteristics of Pediatric Patients with Urea Cycle Disorders |
title_full_unstemmed |
Clinical Characteristics of Pediatric Patients with Urea Cycle Disorders |
title_sort |
clinical characteristics of pediatric patients with urea cycle disorders |
publisher |
T.C. Sağlık Bakanlığı Ankara Şehir Hastanesi |
publishDate |
2022 |
url |
https://dergipark.org.tr/tr/pub/tchd/issue/76265/1098695 https://doi.org/10.12956/tchd.1098695 |
genre |
sami |
genre_facet |
sami |
op_source |
Volume: 17, Issue: 2 101-105 1307-4490 2148-3566 Türkiye Çocuk Hastalıkları Dergisi Turkish Journal of Pediatric Disease |
op_relation |
https://dergipark.org.tr/tr/download/article-file/2354140 https://dergipark.org.tr/tr/pub/tchd/issue/76265/1098695 doi:10.12956/tchd.1098695 |
op_doi |
https://doi.org/10.12956/tchd.1098695 |
container_title |
Turkish Journal of Pediatric Disease |
container_start_page |
1 |
op_container_end_page |
5 |
_version_ |
1766185461500346368 |