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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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Urea-Cycle Disorders as a Paradigm for Inborn Errors of Hepatocyte Metabolism
Trends in Molecular Medicine, 2002 Urea-cycle disorders (UCDs) are a group of inborn errors of hepatocyte metabolism that are caused by the loss of enzymes involved in the process of transferring nitrogen from ammonia to urea, via the urea cycle (UC).
Brendan Lee
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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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Cognitive outcome in urea cycle disorders
Molecular Genetics and Metabolism, 2004Despite treatment, cognitive and motor deficits are common in individuals with inherited urea cycle disorders. However, the extent to which the deficits involve specific cognitive or sensorimotor domains is unknown. Furthermore, little is known about the neurochemical basis of cognitive impairment in these disorders.
Andrea L, Gropman, Mark L, Batshaw
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Liver transplantation in urea cycle disorders
European Journal of Pediatrics, 1999We report here our experience in the long-term management of 28 patients with citrullinaemia, 13 patients with carbamoyl phosphate synthase deficiency and 15 patients with argininosuccinic aciduria. In addition, we report a national French survey of 119 patients with ornithine transcarbamylase (OTC) deficiency enzymatically characterized in our ...
J M, Saudubray +9 more
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Nutritional Management of Urea Cycle Disorders
Critical Care Clinics, 2005Nutritional management of patients who have urea cycle disorders is one of the most challenging tasks in clinical nutrition. The degree to which protein intake should be restricted in urea cycle disorders requires complex calculations which depend on many variables such as specific enzyme defect, age-related growth rate, current health status, level of
Rani H, Singh +5 more
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1990
Patients with urea cycle disorders can present with symptoms from birth to adulthood, depending on the degree of enzyme defect and nitrogen load. Levels of ammonia in the blood should be determined in any newborn with a course which is at variance with the expectation of the clinician especially if symptoms such as loss of appetite, vomiting, seizures,
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Patients with urea cycle disorders can present with symptoms from birth to adulthood, depending on the degree of enzyme defect and nitrogen load. Levels of ammonia in the blood should be determined in any newborn with a course which is at variance with the expectation of the clinician especially if symptoms such as loss of appetite, vomiting, seizures,
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2010
Abstract The urea cycle is a series of steps required to generate urea from nitrogen produced by protein catabolism. The cycle was first described in 1932 by Krebs and Henseleit (Krebs and Henseleit 1932). Six enzymes and two transporters are necessary for urea cycle activity. Specific deficiencies have been described with each of these.
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Abstract The urea cycle is a series of steps required to generate urea from nitrogen produced by protein catabolism. The cycle was first described in 1932 by Krebs and Henseleit (Krebs and Henseleit 1932). Six enzymes and two transporters are necessary for urea cycle activity. Specific deficiencies have been described with each of these.
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Problems in the management of urea cycle disorders
Molecular Genetics and Metabolism, 2004Several recent reviews describe the management of urea cycle disorders. There is much agreement on diet, alternative pathway therapy, maintenance of arginine and ornithine levels in acute and chronic management, sick-day regimens, and some aspects of monitoring. However, differences remain in several areas, and physicians at most treatment centers have
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