Results 1 to 10 of about 23,446 (182)
High Blood Pressure in a Urea Cycle Disorder: Case Report [PDF]
American Journal of Perinatology Reports, 2020 Introduction Urea cycle disorders (UCDs) form a group of metabolic pathological conditions that might develop serious neurological consequences. Early diagnosis, before irreversible damage is established, is the most important prognostic and morbidity ...
Carolina Solé +2 more
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Urea cycle disorder presenting as bilateral mesial temporal sclerosis – an unusual cause of seizures: a case report and review of the literature [PDF]
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 +2 more
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The incidence of urea cycle disorders [PDF]
Molecular Genetics and Metabolism, 2013 A key question for urea cycle disorders is their incidence. In the United States two UCDs, argininosuccinic synthetase and lyase deficiency, are currently detected by newborn screening. We used newborn screening data on over 6million births and data from the large US and European longitudinal registries to determine how common these conditions are. The
Marshall Summar +2 more
exaly +5 more sources
Management of a urea cycle disorder in the setting of socioeconomic and language barriers [PDF]
Molecular Genetics and Metabolism ReportsArgininosuccinic aciduria (ASA) is a disorder that results from a deficiency in the urea cycle enzyme argininosuccinate lyase. Variable manifestations of this hereditary disorder are associated with hyperammonemia and can include lethargy, somnolence ...
Erika Vucko +5 more
doaj +4 more sources
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 +4 more
doaj +4 more sources
Urea cycle disorder misdiagnosed as multiple sclerosis: a case report and review of the literature [PDF]
Neuroradiology Journal, 2018 Urea cycle disorders are a group of inborn errors of metabolism caused by dysfunction of any of the six enzymes or two transport proteins involved in urea biosynthesis.
Hussein Algahtani, Bader Shirah
exaly +3 more sources
Transportation Research Interdisciplinary Perspectives, 2023 Previous studies have shown that lack of attention and delayed reactions cause most car crashes. Populations with known deficits in executive function domains such as inattention and lack of mobility would potentially be vulnerable.
Kosar Khaksari +3 more
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Pegzilarginase in Arginase 1 Deficiency: Clinical and Biochemical Effects of Treatment Initiation, Discontinuation and Re-Initiation [PDF]
ChildrenBackground: Arginase 1 deficiency (ARG1-D) is an ultra-rare urea cycle disorder characterized by hyperargininemia and progressive neurological impairment, including spasticity, loss of motor function, and reduced quality of life.
Martha Caterina Faraguna +10 more
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JIMD Reports, 2023 N‐acetyl glutamate synthase (NAGS) deficiency (OMIM #: 237310) is a rare urea cycle disorder that usually presents early in life with hyperammonemia.
Lea Abou Haidar +5 more
doaj +1 more source
Creatine metabolism in patients with urea cycle disorders
Molecular Genetics and Metabolism Reports, 2021 The urea cycle generates arginine that is one of the major precursors for creatine biosynthesis. Here we evaluate levels of creatine and guanidinoacetate (the precursor in the synthesis of creatine) in plasma samples (ns = 207) of patients (np = 73) with
Filippo Ingoglia +3 more
doaj +1 more source