By S. Harvey Mudd (auth.), Harold H. Draper (eds.)
Volume four of Advances in dietary examine displays the elevated value that lately has been connected to meals in lots of fields of medical medication. This heightened curiosity in meals stems from the demonstration that the consumption of particular nutrition can have far-reaching effects, not just for regular metabolism, but additionally for metabolic techniques affecting scientific or subclinical ailment. Conversely, many sickness states were proven to have formerly unrecognized results on nutrient functionality and metabolism. as well as themes of visible relevance to human medical foodstuff, this quantity comprises chapters facing the nutrients of cells grown in tradition and of species which can offer insights into dietary issues of guy. To gether with its predecessors, quantity four presents graduate scholars and estab lished investigators with authoritative bills of the prestige of study on a number of subject matters of present curiosity in experimental and medical meals. vii Contents bankruptcy 1. Vitamin-Responsive Genetic Abnormalities .......... . S. Harvey Mudd 1. Introduction.............................................. 1 2. historic standpoint ...................................... 2 three. Genetic Abnormalities at present recognized to Be diet Responsive. three four. Mechanisms Underlying diet Responsiveness. . . . . . . . . . . . . . . . 7 4.1. Defects within the Processing of a nutrition sooner than Its interplay in Cofactor shape with a specific Apoenzyme ........ 7 4.2. Defects particularly Apoenzymes that have interaction with the Cofactor kinds of supplements. . . . . . . . . . . . . . . . . . sixteen . . . . . .
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1. Dis. Child. 102:482. , 1975, Characterization of the pyridoxal 5' -phosphate and pyridoxamine 5'-phosphate hydrolase activity in rat liver, 1. Bioi. Chem. 250:8126. MacKenzie,1. , Donaldson, R. , Trier, J. , and Mathan, V. , 1972, Ileal mucosa in familial selective vitamin B'2 malabsorption, N. Engl. 1. Med. 286: 1021. Mahoney, M. , and Rosenberg, L. , 1975, Inborn errors of cobalamin metabolism, in: Cobalamin, Biochemistry and Pathophysiology (B. M. ), pp. 369-402, John Wiley & Sons, New York.
Given the conclusion that the B6 response is usually mediated by a modest enhancement of residual mutant cystathionine ,a-synthase activity, what can be said about the molecular mechanism of this effect? The clearest conclusion seems to be a negative one: the effect is not a straightforward K m effect of the type discussed above. This conclusion is supported by the fact that in no reported assay of hepatic enzyme in a B6 responder has cystathionine ,a-synthase activity been restored to near normal by administration of pyridoxine to the patient or PLP to the in vitro assay system.