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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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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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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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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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Electroencephalographic findings in urea-cycle disorders
Electroencephalography and Clinical Neurophysiology, 1984Eleven electroencephalograms in 4 infants with urea-cycle disorders were reviewed. All infants had one or more abnormal EEGs. The abnormalities consisted mainly of multiareal spikes, spike-waves, or sharp-and-slow-wave activity. In addition, one patient, a term infant, exhibited exaggerated spindle-delta bursts.
N P, Verma, Z H, Hart, K A, Kooi
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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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Carrier Detection of Urea Cycle Disorders
Pediatrics, 1981Published reports100,102,108 indicate that the degree of success attained in the treatment of infants with urea cycle disorders has not been completely satisfactory. Some new approaches in dietary management, using a combination of arginine, benzoate, and phenylacetate may be useful,67,72,76 but more studies are required.
W G, Ng +6 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,
openaire +1 more source