Results 31 to 40 of about 3,294,575 (284)

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

Brain Biomarkers of Long-Term Outcome of Neonatal Onset Urea Cycle Disorder

International Journal of Neonatal Screening, 2016
Urea cycle disorders (UCDs) are common inborn errors of metabolism, with an incidence of one in 30,000 births. They are caused by deficiencies in any of six enzymes and two carrier proteins, the most common being Ornithine Transcarbamylase Deficiency ...
Maha Mourad, Johannes Häberle, Matthew T. Whitehead, Tamar Stricker, Andrea L. Gropman   +4 more
doaj   +1 more source

Usefulness of serum BUN or BUN/creatinine ratio as markers for citrin deficiency in positive cases of newborn screening

Molecular Genetics and Metabolism Reports, 2022
Citrin deficiency belongs to a group of urea cycle disorders that can be identified during newborn screening by measuring citrulline, phenylalanine, methionine, and galactose levels.
Toshihiro Suzuki, Yoichi Wada, Yasuko Mikami-Saito, Atsuo Kikuchi, Shigeo Kure   +4 more
doaj   +1 more source

Extension of Generic Amyloid Hypothesis to Metabolites of Urea Cycle and Uric Acid pathway [PDF]

, 2022
Herein, we report the aggregation properties of metabolites of urea cycle and uric acid pathway. The aggregation/ self-assembly properties of these metabolites were studied extensively via microscopic techniques.
Monisha, Patel, Manoj, Pandey, Nidhi, Gour, Shilpi, Gupta, Aayushi, Joshi, Basil, Wilson   +5 more
core   +1 more source

Urea Cycle and Arginine Metabolic Changes in COVID-19 Patients

, 2023
Aim:Metabolic changes begin after the invasion of an infectious microorganism and continue to develop as a series of interrelated events. Arginine is important in infectious diseases due to lymphocyte proliferation, nitricoxide production by macrophages,
Sedat Özbay, Gülacan Tekin, Tekin, Guelacan, Hekim, Nezih, AYDIN, HÜSEYİN, Ata Berkay Sargın, Aydin, Hueseyin, İlhan Korkmaz, Sargin, Ata Berkay, Yurtbay, Sefa, Sefa Yurtbay, Yusuf Kenan Tekin, Ozbay, Sedat, Hüseyin Aydın, Korkmaz, Ilhan, Tekin, Yusuf Kenan, Nezih Hekim   +16 more
core   +1 more source

N-acetylglutamate synthase deficiency: Novel mutation associated with neonatal presentation and literature review of molecular and phenotypic spectra

Molecular Genetics and Metabolism Reports, 2016
The urea cycle is the main pathway for the disposal of excess nitrogen. Carbamoylphosphate synthetase 1 (CPS1), the first and rate-limiting enzyme of urea cycle, is activated by N-acetylglutamate (NAG), and thus N-acetylglutamate synthase (NAGS) is an ...
Eiman H. Al Kaabi, Ayman W. El-Hattab
doaj   +1 more source

Pathogenesis of a urea cycle disorder in ammonia plasma concentrations and metabolic exchange rates.

, 2012
(A) Simulated venous plasma and intrahepatic concentration profiles of ammonia during development of a urea cycle disorder. The black dashed line represents the overall reduction in ornithine transcarbamylase activity.
Jörg Lippert (124210), Lars Kuepfer (31319), Steffen Borchers (124204), Markus Krauss (124200), Stephan Schaller (124202), Rolf Findeisen (124207)   +5 more
core   +1 more source

Neuropsychiatric manifestations in Late-Onset urea cycle disorder patients

, 2010
Inherited urea cycle disorders represent one of the most common groups of inborn errors of metabolism. Late-onset urea cycle disorders caused by partial enzyme deficiencies may present with unexpected clinical phenotypes. We report 9 patients followed up
Gómez-López, L, Fons, C, Arranz, J A, Artuch, R, Häberle, J, Briones, P, Murgui, E, Serrano, M, Jara, F, Vilaseca, M A, Campistol, J, Pérez-Dueñas, B, García-Cazorla, A, Pineda, M   +13 more
core   +1 more source

Mutation analysis of Indian patients with urea cycle defects [PDF]

, 2012
Molecular testing for a specific metabolic disorder remains the gold standard due to its high specificity and sensitivity and possibility of accurate prenatal diagnosis.
Gupta, Neerja, Häberle, Johannes, Kabra, Madhulika   +2 more
core   +1 more source

Late-Onset Ornithine Carbamoyltransferase Deficiency Accompanying Acute Pancreatitis and Hyperammonemia

Case Reports in Medicine, 2013
Hyperammonemia related to urea cycle disorders is a rare cause of potentially fatal encephalopathy that is encountered in intensive care units (ICUs). Left undiagnosed, this condition may manifest irreversible neuronal damage.
Marcel Cerqueira Cesar Machado, Gilton Marques Fonseca, José Jukemura   +2 more
doaj   +1 more source