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

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

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Chemistry The chemical structure of cobalamin is complex (Fig. 3). It has two characteristic components. The first, and most characteristic, is a planar corrin ring system containing four pyrrole rings each coordinated through its nitrogen atom to a central cobalt nucleus. The second is a dimethylbenzimidazole ribotide portion extending down from the plane of the corrin ring. 57 The molecule is completed by coordinate linkage of one of several different radicals to the cobalt atom. This radical extends up from the corrin plane.

3). It has two characteristic components. The first, and most characteristic, is a planar corrin ring system containing four pyrrole rings each coordinated through its nitrogen atom to a central cobalt nucleus. The second is a dimethylbenzimidazole ribotide portion extending down from the plane of the corrin ring. 57 The molecule is completed by coordinate linkage of one of several different radicals to the cobalt atom. This radical extends up from the corrin plane. Thus cyanocobalamin (CNCbI), the commercial form of vitamin B 12 , is formed by attachment of a cyanide radical to the cobalt atom.

Hyperphosphaturia and reduced intestinal absorption of calcium and phosphate complete the chemical picture. Two conflicting theories of pathogenesis have evolved. One view holds that a primary defect in endogenous conversion of vitamin D to its active metabolite(s) is responsible for intestinal malabsorption of calcium. This in tum leads to secondary hyperparathyroidism, resulting in decreased renal tubular reabsorption of phospate, hypophosphatemia, and rickets. The following recent evidence has tended to weaken this argument: serum concentration of 25-hydroxycholecalciferol in patients with FHR is normal 50 ; serum parathyroid hormone concentrations have been variable reported as normal, reduced, and modestly elevated6 ,82,122; and treatment with physiological doses of 1, 25-dihydroxycholecalciferol produces unimpressive results.

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