Results 1 to 10 of about 24,644 (115)
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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Ammonia storm: unmasking a suspected rare proximal urea cycle disorder in adulthood [PDF]
BMC NeurologyBackground Hyperammonaemia is a medical emergency which is mostly associated with liver dysfunction. However, in the absence of hepatic disease, rare inborn errors of metabolism such as urea cycle disorders (UCDs) must be considered. While UCDs typically
Vikram Vikhe +4 more
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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
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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
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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
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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 +4 more
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Hematology, 2023 Hyperammonemia is a rare and often fatal complication following the conditioning therapy in autologous and allogeneic stem cell transplant recipients. It is characterized by anorexia, vomiting, lethargy and coma without any other apparent cause.
Galina Tsykunova +6 more
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Management of late onset urea cycle disorders—a remaining challenge for the intensivist?
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
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Ornithine Transcarbamylase Deficiency in Iranian Children [PDF]
Iranian Journal of Public Health, 2003 Ammonia is a toxic material for mammalians. It is detoxificated and converted to urea in the urea cycle in liver. Each defect in the urea cycle cause increase in blood ammonia level.
HR Joshaghani +2 more
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