Results 1 to 10 of about 2,610,885 (275)

Corticosteroid suppresses urea-cycle-related gene expressions in ornithine transcarbamylase deficiency

BMC Gastroenterology, 2022
Background Ornithine transcarbamylase deficiency (OTCD) is most common among urea cycle disorders (UCDs), defined by defects in enzymes associated with ureagenesis.
Koji Imoto, Masatake Tanaka, Takeshi Goya, Tomomi Aoyagi, Motoi Takahashi, Miho Kurokawa, Shigeki Tashiro, Masaki Kato, Motoyuki Kohjima, Yoshihiro Ogawa   +9 more
doaj   +4 more sources

Considerations on urea cycle disorders: a child with ornithine transcarbamylase deficiency. [PDF]

Pediatric Anesthesia and Critical Care Journal (PACCJ), 2016
Ornithine transcarbamylase deficiency is the most common inside the group of the urea cycle disorders. Anesthesic management focus on reduce the patient ́s stress along all the surgical process.
M. Bellido, M. Gonzalez Perez, A. Martinez Ruiz, I. Barcelo   +3 more
doaj   +2 more sources

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   +2 more sources

Late-onset ornithine transcarbamylase deficiency: An under recognized cause of metabolic encephalopathy

SAGE Open Medical Case Reports, 2014
Introduction: Ornithine transcarbamylase deficiency is the most common inherited disorder of the urea cycle, has a variable phenotype, and is caused by mutations in the OTC gene.
Eric T Rush, Julianne E Hartmann, Jill C Skrabal, William B Rizzo   +3 more
doaj   +2 more sources

Arginase deficiency presenting as acute encephalopathy

Journal of Pediatric Neurosciences, 2019
Urea cycle disorders are rare metabolic disorders that present as encephalopathy with hyperammonemia. Arginase deficiency causing hyperargininemia is one among the urea cycle disorders, which usually presents as spastic diplegia.
Leema Pauline Cornelius, Vivekasaravanan Raju, Asir Julin   +2 more
doaj   +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

A Case of Hyperargininaemia Presenting at Unusually Low Age [PDF]

Journal of Clinical and Diagnostic Research, 2017
Arginase or ARG1 gene deficiency is a Type V Urea Cycle Disorder (UCD) (catalysing the fifth reaction of urea cycle), associated with hyperammonaemia.
Vanita Lal, Daisy Khera, Garima Gupta, Kuldeep Singh, Praveen Sharma   +4 more
doaj   +1 more source

Ornithine Transcarbamylase – From Structure to Metabolism: An Update

Frontiers in Physiology, 2021
Ornithine transcarbamylase (OTC; EC 2.1.3.3) is a ubiquitous enzyme found in almost all organisms, including vertebrates, microorganisms, and plants. Anabolic, mostly trimeric OTCs catalyze the production of L-citrulline from L-ornithine which is a part ...
Morgane Couchet, Charlotte Breuillard, Christelle Corne, John Rendu, Béatrice Morio, Uwe Schlattner, Uwe Schlattner, Christophe Moinard   +7 more
doaj   +1 more source

Nonhepatic Hyperammonemia With Septic Shock: Case and Review of Literature

Journal of Investigative Medicine High Impact Case Reports, 2022
Elevated ammonia levels lead to cerebral edema, encephalopathy, seizures, coma, and death. Hyperammonemia is primarily associated with liver disease; however, there are rare cases without liver disease.
Nishil Dalsania MD, Suhali Kundu MD, Ravi Karan Patti MBBS, Navjot Somal MBBS, Yizhak Kupfer MD   +4 more
doaj   +1 more source

N‐acetylglutamate synthase deficiency with associated 3‐methylglutaconic aciduria: A case report

JIMD Reports, 2022
N‐acetylglutamate synthase (NAGS) deficiency is a rare autosomal recessive disorder, which results in the inability to activate the key urea cycle enzyme, carbamoylphosphate synthetase 1 (CPS1).
Arthavan Selvanathan, Kalliope Demetriou, Matthew Lynch, Michelle Lipke, Carolyn Bursle, Aoife Elliott, Anita Inwood, Leanne Foyn, Brett McWhinney, David Coman, Jim McGill   +10 more
doaj   +1 more source