Clinical Characteristics of Pediatric Patients with Urea Cycle Disorders

Authors : Çiğdem Seher KASAPKARA, Asburce OLGAC, Mustafa KILIÇ, Johannes HAEBERLE

Pages : 101-105

Doi:10.12956/tchd.1098695

View : 8 | Download : 5

Publication Date : 2023-03-22

Article Type : Research Paper

Abstract :Objective: Urea cycle disorders insert ignore into journalissuearticles values(UCDs); are inherited deficiencies of the enzymes or transport molecules involved in the cellular excretion of excess ammonia produced during protein metabolism. The aim of this study was to evaluate the clinical 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 Ulus Maternity and Child Health Training and Research Hospital. Clinical characteristics in 16 patients with UCDs [carbamoyl phosphate synthetase I deficiency insert ignore into journalissuearticles values(n=1);, N-acetylglutamate synthase deficiencyinsert ignore into journalissuearticles values(n=1);, argininosuccinate lyase deficiency insert ignore into journalissuearticles values(n=4);, argininosuccinate synthetase deficiency insert ignore into journalissuearticles values(n=4);, arginase deficiency insert ignore into journalissuearticles values(n=2);, ornithine transcarbamylase deficiency insert ignore into journalissuearticles values(n=2);, hyperammonemia hyperornithinemia homocitrullinuria syndrome insert ignore into journalissuearticles values(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 neonatal period. Results: Eight patients presented with acute metabolic crisis during newborn period. Core clinical phenotype in neonatal-onset UCDs included sepsis-like findings, whereas epilepsy and mental retardation was predominant in lateonset UCDs. 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. UCDs should be suspected in pediatric patients with hyperammonemia and metabolic investigations should be performed immediately to enlighten diagnosis. Neonatal-onset UCD usually present with symptoms of acute hyperammonemia, while moresubtle neurological manifestations are frequent initial findings in the late onset UCD.
Keywords : hiperamonyemi, yenidoğan, doğuştan üre döngüsü bozuklukları