Detection of carbamyl phosphate synthetase 1 deficiency using duodenal biopsy samples.
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چکیده
منابع مشابه
Detection of carbamyl phosphate synthetase 1 deficiency using duodenal biopsy samples.
The activity of urea cycle enzymes was assayed in duodenal biopsy specimens obtained from a female infant who presented with neonatal hyperammonaemia. All enzyme levels were normal except N-acetyl glutamate-dependent carbamyl phosphate synthetase 1 (CPS1) which was half the mean activity in normal control specimens. A similar deficiency of CPS1 was also shown in duodenal specimens from the pati...
متن کاملSuccessful treatment of severe carbamyl phosphate synthetase I deficiency.
We describe a girl with neonatal hyperammonaemia due to carbamyl phosphate synthetase I deficiency. Treatment consisted of protein restriction from the second day of life. Sodium benzoate was given for three weeks after birth and again from 7 months of age together with sodium phenylacetate to improve protein tolerance. Growth and development are normal at 15 months of age.
متن کاملA Kinetic Study of Carbamyl Phosphate Synthetase.
While it is clear from the stoichiometry of the over-all reaction (Reaction 3) that 2 moles of ATP are utilized per mole of carbamyl phosphate formed (l), equilibrium dialysis experiments indicated that only 1 mole of ATP was bound per mole of enzyme in the absence of acetylglutamate (2). In order to gain more information about the nature of ATP binding by carbamyl phosphate synthetase, kinetic...
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67....---.MEISTER, A., Enzymes, 6, 247 (1YW).22. MOYED, H. S., AND MAGASANIK, B., J. Biol. Chem., 226, 351(1957).bygestonOcber9,2017hp://www.jb.org/Downladedfrom Sumner M. Kalman, Patricia H. Duffield and Thomas BrzozowskiPurification and Properties of a Bacterial Carbamyl Phosphate Synthetase 1966, 241:1871-1877.<l...
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The most noteworthy contrasts between the two reactions are the requirement for catalytic amounts of an appropriate derivative of glutamic acid in the case of the liver system, and the difference in stoichiometry with respect to nucleotides. As predicted from thermodynamics the bacterial system is freely reversible; the liver system is not. In this paper, evidence will be presented that the equ...
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ژورنال
عنوان ژورنال: Archives of Disease in Childhood
سال: 1980
ISSN: 0003-9888,1468-2044
DOI: 10.1136/adc.55.10.826-b