Results 21 to 30 of about 41,607 (263)

Management of metabolic crisis in three-dayold newborn

Liječnički vjesnik, 2023
Urea cycle disorders are a group of metabolic disorders, caused by deficiency of one of the enzymes in the urea cycle, presenting with hyperammonemia triggered by catabolism or protein overload.
Tea Kržak, Lorena Loje Loje, Ivo Barić, Dorotea Ninković   +3 more
doaj   +1 more source

EVALUATION OF APPLIED DIETARY MANAGEMENT IN PATIENTS WITH UREA CYCLE DISORDERS [PDF]

Journal of Environmental Science, 2020
Urea cycle disorders (UCDs) represent a group of rare inherited metabolic disorders resulting from a partial or complete deficiency of one of the urea cycle components, thereby resulting in accumulation of ammonia, as well as other nitrogenous products ...
Neama NorEldin, Safwat Ali, Osama Zaki, Mohamed Omar   +3 more
doaj   +1 more source

Exploring RNA therapeutics for urea cycle disorders. [PDF]

J Inherit Metab Dis
RNA has triggered a significant shift in modern medicine, providing a promis-ing way to revolutionize disease treatment methods. Different therapeutic RNA modalities have shown promise to replace, supplement, correct, suppress,or eliminate the expression
Richard E, Martínez-Pizarro A, Desviat LR.   +2 more
europepmc   +2 more sources

Hemodynamics of Prefrontal Cortex in Ornithine Transcarbamylase Deficiency: A Twin Case Study

Frontiers in Neurology, 2020
Ornithine transcarbamylase deficiency (OTCD) is the most common form of urea cycle disorder characterized by the presence of hyperammonemia (HA). In patients with OTCD, HA is known to cause impairments in domains of executive function and working memory.
Afrouz A. Anderson, Andrea Gropman, Cynthia Le Mons, Constantine A. Stratakis, Amir H. Gandjbakhche   +4 more
doaj   +1 more source

Supporting your practice: Compounding sodium benzoate oral liquid for urea cycle disorders

, 2021
Urea cycle disorders (UCD) are rare inherited metabolic disorders with an incidence estimated to be 1: 35,000 births. UCDs are caused by the dysfunction of any of the six enzymes (namely, carbamoyl phosphate synthetase I, N-acetylglutamate synthetase ...
Haywood, Alison, Glass, Beverley
core   +1 more source

Hereditary Amino Acid Metabolism Disorders and Urea Cycle Disorders: to Practicing Physician

Вопросы современной педиатрии, 2023
Hereditary amino acid metabolism disorders (aminoacidopathies) are clinically and genetically heterogeneous group of hereditary metabolic diseases caused by enzymes deficiency involved in amino acid metabolism, that finally leads to progressive damage of
Nataliya V. Zhurkova, Nato V. Vashakmadze, Nataliya S. Sergienko, Anastasiya N. Dudina, Mariya S. Karaseva, Liliya R. Selimzyanova, Anna Yu. Rachkova, Yuliya Yu. Kotalevskaya, Andrey N. Surkov   +8 more
doaj   +1 more source

Rare Adult-onset Citrullinemia Type 1 in the Postpartum Period: A Case Report

Clinical Practice and Cases in Emergency Medicine, 2023
Introduction: Citrullinemia type 1 (CTLN1) is a urea cycle disorder caused by defective argininosuccinate synthetase leading to impaired ammonia elimination.
Michael Borsuk, Mathew Saab, Michael Tobin   +2 more
doaj   +1 more source

Relationship between longitudinal changes in neuropsychological outcome and disease biomarkers in urea cycle disorders

, 2023
BACKGROUND: Urea cycle disorders (UCDs) cause impaired conversion of waste nitrogen to urea leading to rise in glutamine and ammonia. Elevated ammonia and glutamine have been implicated in brain injury.
McCarter, Robert, Sanz, Jacqueline H, Baumgartner, Matthias R; https://orcid.org/, et al, Urea Cycle Disorders Consortium, Lichter-Konecki, Uta   +5 more
core   +1 more source

Barriers to drug adherence in the treatment of urea cycle disorders: Assessment of patient, caregiver and provider perspectives

Molecular Genetics and Metabolism Reports, 2016
Patients and families living with metabolic disorders face challenging dietary and drug treatment regimens. On the hypothesis that poor palatability, volume and frequency of drug/formula administration contribute to treatment non-adherence and ...
Oleg A. Shchelochkov, Klara Dickinson, Bruce F. Scharschmidt, Brendan Lee, Miguel Marino, Cynthia Le Mons   +5 more
doaj   +1 more source

Urea cycle disorder presenting as bilateral mesial temporal sclerosis – an unusual cause of seizures: a case report and review of the literature

Journal of Medical Case Reports, 2018
Background Urea cycle disorders are secondary to defects in the system converting ammonia into urea, causing accumulation of ammonia and other byproducts which are neurotoxic.
Furene Sijia Wang, Denise Li Meng Goh, Hian Tat Ong   +2 more
doaj   +1 more source