Download Advances in Human Genetics 6 by Leon E. Rosenberg (auth.), Harry Harris, Kurt Hirschhorn PDF

By Leon E. Rosenberg (auth.), Harry Harris, Kurt Hirschhorn (eds.)

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Absorption and Activation During the past decade, increases in our knowledge of vitamin D metabolism have been enormous. inert and must undergo chemical modification before assuming its biological role. Like so many other lipid-soluble compounds, vitamin D is absorbed from the jejunum and ileum into the intestinal lymphatics by processes facilitated by bile salts. In the lymph and blood it circulates bound primarily to a2-globulins, with smaller amounts carried by albumin and aI-globulin. Circulating vitamin D is rapidly taken up by the liver, where the first of its chemical modifications takes place.

26 It is now believed that this compound, formed by two sequential hydroxylations in two different organs, then circulates to gut and skeleton, where it enhances calcium absorption and mobilization, respectively. Chapter 1: Vitamin-Responsive Metabolic Disorders 37 Acquired and Inherited Rickets The skeletal disorder known as rickets was described in the seventeenth century, long before any appreciation of the existence of vitamin D or its effect on bone mineral metabolism. 116 In the eighteenth century, cod liver oil was being prescribed for rachitic patients, but 200 years were to elapse before it was learned that sunlight and fish liver oil were both acting to restore the normal tissue content of a sterol which we now recognize as vitamin D.

Contrasting Features of Mutase Apoenzyme and Cobalamin Mutants in Cultured Fibroblasts Mutanta Tissue preparation Whole cells Cell-free extracts Parameter Propionate oxidationb Ado-Cbl accumulation" Me-Cbl accumulationC Mutase activityd Ado-Cbl synthesis' Mutase apoenzyme + + + cbl A cbl B cbl C + + + + + + + Symbols: +, normal phenotype; -, abnormal phenotype. Evolution of 14C02 from 14C-propionate. See Rosenberg et al. 128 C Conversion of "Co-OR-Cbl to 57Co-coenzymes. See Mahoney et al. 93 d Isomerization of 3R-methylmaJonyl-CoA to 3R-succinyl-CoA with added Ado-Cbl (10- 5 M).

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