Results 51 to 60 of about 23,446 (182)

Metabolic reprogramming of the urea cycle pathway in experimental pulmonary arterial hypertension rats induced by monocrotaline

Respiratory Research, 2018
Background Pulmonary arterial hypertension (PAH) is a rare systemic disorder associated with considerable metabolic dysfunction. Although enormous metabolomic studies on PAH have been emerging, research remains lacking on metabolic reprogramming in ...
Hai-Kuo Zheng, Jun-Han Zhao, Yi Yan, Tian-Yu Lian, Jue Ye, Xiao-Jian Wang, Zhe Wang, Zhi-Cheng Jing, Yang-Yang He, Ping Yang   +9 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

Clinical and Genetic Characterization and Biochemical Correlation at Presentation in 48 Patients Diagnosed with Urea Cycle Disorders at the Hospital Juan P Garrahan, Argentina

Journal of Inborn Errors of Metabolism and Screening, 2021
The clinical and biochemical findings in a cohort of 51 patients with urea cycle disorders followed at the Hospital Garrahan, Buenos Aires, Argentina were analyzed at the time of diagnosis (3 female patients were excluded). Of this cohort, 13/48 patients
Ana Clara Bernal, Maria Cruz Tubio, Carolina Crespo, Hernán Diego Eiroa   +3 more
doaj   +1 more source

Hyperammonemia in patients on Valproic Acid therapy in a tertiary care hospital of Karachi

Khyber Medical University Journal, 2023
OBJECTIVE: to assess the incidence of hyperammonemia in patients receiving valproic acid (VPA) therapy. METHODS: This cross-sectional study was conducted at the Department of Neurology, Ziauddin Medical University and Hospital, Karachi, for six months ...
Iqra Ali, Bashir Ahmed Soomro, Farrukh Malik   +2 more
doaj   +1 more source

Biochemical markers and neuropsychological functioning in distal urea cycle disorders

, 2018
Urea cycle disorders often present as devastating metabolic conditions, resulting in high mortality and significant neuropsychological damage, despite treatment.
Cederbaum, Stephen, Robert McCarter, Waisbren, Susan E; https://orcid.org/, Amy Holbert, Susan E. Waisbren, Peter Burgard, Stephen Cederbaum, McCarter, Robert, null null, Holbert, Amy, David Cuthbertson, Burgard, Peter, Cuthbertson, David   +12 more
core   +1 more source

Hyperargininemia: a rare diagnosis in adulthood

European Journal of Case Reports in Internal Medicine
Background: Hyperargininemia is a rare inherited metabolic disorder of the urea cycle with an autosomal recessive transmission. It occurs due to a deficiency of the enzyme arginase I and causes progressive neurological damage.
Carolina Freitas Henriques, Rui Fernandes, Francisco Barreto, Rubina Miranda, Teresa Carolina Aguiar   +4 more
doaj   +1 more source

Citrullinemia type I and hypertrophic pyloric stenosis in a 1-month old male infant

Clinics and Practice, 2013
Citrullinemia type I (CTLN1) is an inherited urea cycle disorder, now included in most newborn screening panels in the US and Europe. Due to argininosuccinate synthetase deficiency, CTLN1 can lead to recurrent hyperammonemic crisis that may result in ...
Yoona Rhee, Todd Heaton, Catherine Keegan, Ayesha Ahmad   +3 more
doaj   +1 more source

Clinical and genetic analysis of five Chinese patients with urea cycle disorders

Molecular Genetics & Genomic Medicine, 2020
Background The urea cycle plays a key role in preventing the accumulation of toxic nitrogenous waste products, including two essential enzymes: ornithine transcarbamylase (OTC) and argininosuccinate lyase (ASL).
Zhenzhu Zheng, Yiming Lin, Weihua Lin, Lin Zhu, Mengyi Jiang, Wenjun Wang, Qingliu Fu   +6 more
doaj   +1 more source

Plasma Urea Cycle Metabolites May Be Useful Biomarkers in Children With Eosinophilic Esophagitis [PDF]

, 2019
Background: Eosinophilic esophagitis (EoE) is a disorder of the esophagus that has become increasingly recognized in children. Because these children undergo multiple endoscopies, discovering a non-invasive biomarker of disease activity is highly ...
Lindsay M. Moye, Yuying Liu, Nagireddy Putluri, Cristian Coarfa, Jon Marc Rhoads   +4 more
core   +1 more source

Urea cycle disorder

Mental Health Clinician, 2013
Urea cycle disorder is a rare genetic disorder in which there is a full or partial deficiency in the enzymes of the urea cycle, causing a defect in the metabolism of excess nitrogen, and leading to hyperammonemia. This article reviews the clinical presentation, diagnosis, treatment, and drug-disease state implications of urea cycle disorders.
openaire   +1 more source