Results 241 to 250 of about 2,610,885 (275)
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Zinc-deficiency and activities of urea cycle-related enzymes in rats
Experientia, 1980In contrast to previous reports, an increase in glutamate dehydrogenase activity and no change in arginase activity were observed in rats fed a zinc-deficient diet for 15 weeks. The discrepancies could be due to a difference in degree and duration of zinc-deficiency.
M, Rahmatullah +3 more
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Ornithine transcarbamylase deficiency: a urea cycle defect
European Journal of Paediatric Neurology, 2003The symptoms and signs of ornithine transcarbamylase deficiency are discussed. When the condition occurs among males in the neonatal period it is likely to be lethal. Pathological findings are non-specific. The diagnosis should be considered if coma with cerebral oedema and respiratory alkalosis occurs for no obvious reason.
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Heritable urea cycle enzyme deficiency-liver disease in 16 patients
The Journal of Pediatrics, 1979The liver mitochondrial enzymes ornithine transcarbamylase and carbamyl phosphate synthetase I catalyze the first two steps in the Krebs-Henseleit pathway from ammonia to of either of these enzymes has been associated with severe and sometimes fatal hyperammonemia in infancy and childhood, but liver histology has usually been described as normal.
D R, LaBrecque +4 more
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Hyperammonemia in zinc deficiency: activities of urea cycle related enzymes
Nutrition Research, 1987Abstract An increase in plasma ammonia (NH+4) and a decrease in blood urea nitrogen (BUN) have been reported in zinc deficient animals and human subjects. These observations have prompted us to study the effect of dietary zinc deficiency on the activities of the urea cycle related enzymes in experimental animals.
Zafrallah T. Cossack, Ananda S. Prasad
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Double deficiencies of urea cycle enzymes in human liver
Biochemical Medicine, 1979Abstract The activities of the enzymes of the urea cycle were measured in liver samples from two infants with severe hyperammonemia who had died a few days after birth. In the first case, carbamyl phosphate synthetase (ammonia) activity was undetectable in liver homogenates, and ornithine transcarbamylase activity was significantly lower than that of
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Expert Opinion on Therapeutic Targets, 2017
Carbamoyl phosphate synthetase 1 (CPS1) deficiency (CPS1D) is a rare autosomal recessive urea cycle disorder (UCD), which can lead to life-threatening hyperammonemia. Unless promptly treated, it can result in encephalopathy, coma and death, or intellectual disability in surviving patients.
Carmen Díez Fernández +1 more
exaly +4 more sources
Carbamoyl phosphate synthetase 1 (CPS1) deficiency (CPS1D) is a rare autosomal recessive urea cycle disorder (UCD), which can lead to life-threatening hyperammonemia. Unless promptly treated, it can result in encephalopathy, coma and death, or intellectual disability in surviving patients.
Carmen Díez Fernández +1 more
exaly +4 more sources
Mental Retardation and Developmental Disabilities Research Reviews, 1995
AbstractAlthough individually inborn errors of metabolism are rare, collectively they contribute significantly to morbidity and mortality in the pediatric age group. There are several reasons why, out of these inborn errors of metabolism, urea cycle disorders have emerged as potentially good candidates for the development of gene therapy.
James Wilson +2 more
exaly +2 more sources
AbstractAlthough individually inborn errors of metabolism are rare, collectively they contribute significantly to morbidity and mortality in the pediatric age group. There are several reasons why, out of these inborn errors of metabolism, urea cycle disorders have emerged as potentially good candidates for the development of gene therapy.
James Wilson +2 more
exaly +2 more sources
The Study of Carbamoyl Phosphate Synthetase 1 Deficiency Sheds Light on the Mechanism for Switching On/Off the Urea Cycle [PDF]
Journal of Genetics and Genomics, 2015 Carbamoyl phosphate synthetase 1 (CPS1) deficiency (CPS1D) is an inborn error of the urea cycle having autosomal (2q34) recessive inheritance that can cause hyperammonemia and neonatal death or mental retardation. We analyzed the effects on CPS1 activity, kinetic parameters and enzyme stability of missense mutations reported in patients with CPS1 ...
Vicente Rubio +2 more
exaly +6 more sources
A Neonatal Screening Test for Argininosuccinic Acid Lyase Deficiency and Other Urea Cycle Disorders
Pediatrics, 1982A simple enzyme-multiple auxotroph assay has been developed for the identification of newborn infants with several of the inherited metabolic defects in the Krebs cycle for the detoxification of ammonia and in the ornithine metabolic pathway. This mass screening test is used with dried filter paper blood specimens and can easily be added to existing ...
H W, Talbot +3 more
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The Journal of Nutrition, 1989
After 12 wk of feeding a 4-d nitrogen balance was carried out in 8 vitamin A--deficient and 8 pair-fed control rats to understand the effect of vitamin A deficiency on protein metabolism. Urea nitrogen (UN) was lower and amino nitrogen (AN) was higher in plasma of deficient animals than in pair-fed controls.
A, John, B, Sivakumar
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After 12 wk of feeding a 4-d nitrogen balance was carried out in 8 vitamin A--deficient and 8 pair-fed control rats to understand the effect of vitamin A deficiency on protein metabolism. Urea nitrogen (UN) was lower and amino nitrogen (AN) was higher in plasma of deficient animals than in pair-fed controls.
A, John, B, Sivakumar
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