Results 1 to 10 of about 40,628 (145)
Urea cycle disorders and indications for liver transplantation [PDF]
Frontiers in Pediatrics, 2023 Urea cycle disorders (UCD) are inborn errors of metabolism caused by deficiency of enzymes required to convert nitrogen from ammonia into urea.
Marta García Vega +7 more
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Modelling urea cycle disorders using iPSCs [PDF]
npj Regenerative Medicine, 2022 The urea cycle is a liver-based pathway enabling disposal of nitrogen waste. Urea cycle disorders (UCDs) are inherited metabolic diseases caused by deficiency of enzymes or transporters involved in the urea cycle and have a prevalence of 1:35,000 live ...
Claire Duff, Julien Baruteau
doaj +2 more sources
Creatine metabolism in patients with urea cycle disorders [PDF]
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 +2 more sources
Citrulline in the management of patients with urea cycle disorders [PDF]
Orphanet Journal of Rare Diseases, 2023 Background Treatment recommendations for urea cycle disorders (UCDs) include supplementation with amino acids involved in the urea cycle (arginine and/or citrulline, depending on the enzyme deficiency), to maximize ammonia excretion through the urea ...
Apolline Imbard +10 more
doaj +2 more sources
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 +4 more sources
Unmet Needs of Parents of Children with Urea Cycle Disorders [PDF]
Children, 2022 (1) Background: Phenotypic diversity and long-term health outcomes of individuals with urea cycle disorders (UCDs) have been described in detail. However, there is limited information on the burden on affected families.
Mara Scharping +8 more
doaj +2 more sources
Management of late onset urea cycle disorders—a remaining challenge for the intensivist? [PDF]
Annals of Intensive Care, 2021 Background Hyperammonemia caused by a disorder of the urea cycle is a rare cause of metabolic encephalopathy that may be underdiagnosed by the adult intensivists because of its rarity.
S. Redant +6 more
doaj +2 more sources
JAAPAABSTRACT Urea cycle disorders (UCDs) are rare genetic disorders affecting the urea cycle, a metabolic pathway that leads to the excretion of waste products such as ammonia. This case report describes a patient who developed acute encephalopathy secondary to hyperammonemia.
Bisht S, Morales A, Jaishankar GB.
europepmc +5 more sources
Considering Proximal Urea Cycle Disorders in Expanded Newborn Screening [PDF]
International Journal of Neonatal Screening, 2020 Proximal urea cycle disorders (PUCDs) have adverse outcomes such as intellectual disability and death, which may benefit from newborn screening (NBS) through early detection and prevention with early treatment. Ornithine transcarbamylase deficiency (OTCD)
Tania Vasquez-Loarte +2 more
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Hepatic Manifestations of Urea Cycle Disorders. [PDF]
Clin Liver Dis (Hoboken), 2021 Content available: Author Interview and Audio Recording.
Strong A, Gold J, Gold NB, Yudkoff M.
europepmc +4 more sources