Clinical Characteristics of Pediatric Patients with Urea Cycle Disorders

• Published in: Turkish Journal of Pediatric Disease
• Main Authors: KASAPKARA, Çiğdem Seher, OLGAC, Asburce, KILIÇ, Mustafa, HAEBERLE, Johannes
• Format: Article in Journal/Newspaper
• Language: English
• Published: T.C. Sağlık Bakanlığı Ankara Şehir Hastanesi 2022
• Subjects: hyperammonemia;neonatal;Inborn urea cycle disorders; hiperamonyemi;yenidoğan;doğuştan üre döngüsü bozuklukları; Genel ve Dahili Tıp; General and Internal Medicine; sami
• Online Access: https://dergipark.org.tr/tr/pub/tchd/issue/76265/1098695; https://doi.org/10.12956/tchd.1098695

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 ...