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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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Citrulline for urea cycle disorders in Japan
Pediatrics International, 2016AbstractBackgroundThe amino acid l‐citrulline is used as a therapeutic agent for urea cycle disorders (UCD) including ornithine transcarbamylase deficiency (OTCD), carbamoyl phosphate synthetase I deficiency (CPSD), and N‐acetylglutamate synthase deficiency.
Kenichi, Tanaka +6 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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Okonkwo I, Stuart G, Ekasumara NF, Huncke TK: Urea cycle disorders, 2021
Okonkwo, Ijeoma +3 more
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Okonkwo, Ijeoma +3 more
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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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Biochemical Aspects of Urea Cycle Disorders
Pediatrics, 1981In this paper I will review the biochemistry of the urea cycle of mammalian liver and point out the important clinical implications of this biochemistry. Second, I will consider some problems that arise in the use of human liver enzyme assays for evaluating deficiencies of urea cycle enzymes.
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2000
Five inherited disorders of the urea cycle are now well described. These are characterised by hyperammonaemia and disordered amino-acid metabolism. The presentation is highly variable: those presenting in the newborn period usually have an overwhelming illness that rapidly progresses from poor feeding, vomiting, lethargy or irritability and tachypnoea ...
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Five inherited disorders of the urea cycle are now well described. These are characterised by hyperammonaemia and disordered amino-acid metabolism. The presentation is highly variable: those presenting in the newborn period usually have an overwhelming illness that rapidly progresses from poor feeding, vomiting, lethargy or irritability and tachypnoea ...
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