Results 201 to 210 of about 23,457 (249)
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Current Treatment Options in Neurology, 2003
Urea cycle disorders comprise a group of inborn errors of metabolism that represent unique gene-nutrient interactions whose significant morbidity arises from acute and chronic neurotoxicity associated with often massive hyperammonemia. Current paradigms of treatment are focused on controlling the flux of nitrogen transfer through the hepatic urea cycle
Kleppe, Soledad +2 more
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Urea cycle disorders comprise a group of inborn errors of metabolism that represent unique gene-nutrient interactions whose significant morbidity arises from acute and chronic neurotoxicity associated with often massive hyperammonemia. Current paradigms of treatment are focused on controlling the flux of nitrogen transfer through the hepatic urea cycle
Kleppe, Soledad +2 more
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Journal of Human Genetics, 2019
The urea cycle is a metabolic pathway for the disposal of excess nitrogen, which arises primarily as ammonia. Nitrogen is essential for growth and life-maintenance, but excessive ammonia leads to life-threatening conditions. The urea cycle disorders (UCDs) comprise diseases presenting with hyperammonemia that arise in either the neonatal period (about ...
Matsumoto, Shirou +5 more
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The urea cycle is a metabolic pathway for the disposal of excess nitrogen, which arises primarily as ammonia. Nitrogen is essential for growth and life-maintenance, but excessive ammonia leads to life-threatening conditions. The urea cycle disorders (UCDs) comprise diseases presenting with hyperammonemia that arise in either the neonatal period (about ...
Matsumoto, Shirou +5 more
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Treatment of Urea Cycle Disorders
Enzyme, 2017Recent advances in the treatment of inborn errors of urea synthesis have significantly decreased mortality. Treatment has included combining a high-quality low-protein diet with supplements of deficient metabolites and stimulation of alternate pathways of waste nitrogen excretion.
M L, Batshaw, P S, Monahan
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2019
A female infant, weighing 2786 g, was born at 39 weeks gestational age with Apgar scores of 8 points at 1 min and 9 points at 5 min after birth. She had no family history of hereditary disorders. Although she had no medical problems at birth and consumed her mother’s breast milk, she developed fever with increased white blood cell counts (WBC: 22,070 ...
Kimitoshi Nakamura +2 more
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A female infant, weighing 2786 g, was born at 39 weeks gestational age with Apgar scores of 8 points at 1 min and 9 points at 5 min after birth. She had no family history of hereditary disorders. Although she had no medical problems at birth and consumed her mother’s breast milk, she developed fever with increased white blood cell counts (WBC: 22,070 ...
Kimitoshi Nakamura +2 more
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JAAPA
ABSTRACT 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.
Francis Rossignol +4 more
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ABSTRACT 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.
Francis Rossignol +4 more
+5 more sources
2016
The urea cycle is the final pathway for removal of surplus nitrogen from the body, the major route in humans for irreversible detoxification of ammonia and a source of arginine.2,3 Patients with adult-onset urea cycle disorders present with clinical symptoms that have a broad differential diagnosis (e.g., protein aversion, inappetence, cyclic vomiting,
Stefan Kölker +2 more
+5 more sources
The urea cycle is the final pathway for removal of surplus nitrogen from the body, the major route in humans for irreversible detoxification of ammonia and a source of arginine.2,3 Patients with adult-onset urea cycle disorders present with clinical symptoms that have a broad differential diagnosis (e.g., protein aversion, inappetence, cyclic vomiting,
Stefan Kölker +2 more
+5 more sources
Hospital Practice, 1985
A major achievement of decades of research has been identification of the specific biochemical urea cycle defects responsible for the five inherited enzyme deficiencies, any of which can cause hype...
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A major achievement of decades of research has been identification of the specific biochemical urea cycle defects responsible for the five inherited enzyme deficiencies, any of which can cause hype...
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Clinics in Liver Disease, 2000
Deficiency of any of the five enzymes in the urea cycle results in the accumulation of ammonia and leads to encephalopathy. Episodes of encephalopathy and associated symptoms are unpredictable and, if untreated, are lethal or produce devastating neurologic sequelae in long-term survivors.
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Deficiency of any of the five enzymes in the urea cycle results in the accumulation of ammonia and leads to encephalopathy. Episodes of encephalopathy and associated symptoms are unpredictable and, if untreated, are lethal or produce devastating neurologic sequelae in long-term survivors.
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Diagnosis of Urea Cycle Disorders
Enzyme, 2017Hyperammonemia in pediatrics can be due to a number of causes (defects of urea cycle enzymes or transport of its metabolites, organic acidurias, acyl-CoA dehydrogenase or carnitine deficiency, liver bypass or nonspecific insufficiency) requiring differentiated rapid treatment for a satisfactory prognosis. The specific diagnosis cannot be established by
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Newborn Screening for Urea Cycle Disorders
Pediatrics, 1981Mass screening of newborn infants for inherited metabolic disorders began in the early 1960s with the development of the Guthrie bacterial inhibition assay for the detection of phenylketonuria (PKU).117 This simple assay utilizing dried filter paper blood specimens collected by heel prick from newborn infants has resulted in mass screening for PKU ...
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