{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,9,17]],"date-time":"2023-09-17T12:10:12Z","timestamp":1694952612976},"reference-count":23,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[1985,10,31]],"date-time":"1985-10-31T00:00:00Z","timestamp":499564800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[1986,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A sensitive direct colourimetric method has been employed to measure kinetic parameters and pH dependence of carbamyl phosphate synthetase\u2010I, in a liver sample from a 2 1\/2\u2010month\u2010old girl, who died from complications of a late\u2010developing congenital hyperammonaemia. The residual activity of carbamyl phosphate synthetase\u2010I was 25%, whereas other urea cycle enzymes were within normal range. Apparent<jats:italic>K<\/jats:italic><jats:sub>m<\/jats:sub> for ammonium ion (0.73 mmol\/L) was significantly increased (normal range 0.24\u20130.51).<jats:italic>K<\/jats:italic><jats:sub>m<\/jats:sub> for bicarbonate ion was normal, while<jats:italic>K<\/jats:italic><jats:sub>m<\/jats:sub> for NAG showed a slight variation from normal. The pH dependence curve of the patient's enzyme was flat, as compared to two controls showing pH optima at 7.8. Radial immunodiffusion (Mancini) of the abnormal enzyme against human enzyme antiserum gave a cross\u2010reacting material of 10\u201320%. The methodological approach presented can be used to characterize abnormal enzymes in cases of partial deficiency with only 100\u2013200 mg of liver tissue.<\/jats:p>","DOI":"10.1007\/bf01799657","type":"journal-article","created":{"date-parts":[[2005,6,21]],"date-time":"2005-06-21T16:50:57Z","timestamp":1119372657000},"page":"253-260","source":"Crossref","is-referenced-by-count":1,"title":["Kinetic abnormalities of carbamyl phosphate synthetase\u2010I in a case of congenital hyperammonaemia"],"prefix":"10.1002","volume":"9","author":[{"given":"I. 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