Genetic Defects

Individuals with genetic defects that limit conversion of a vitamin to its coenzyme form develop severe deficiency diseases. Defects in the utilization of biotin, cobalamin, folate, niacin, pyridoxine, and thiamin are known. Effects of some of these diseases are relieved by large doses of the vitamin, but the degree of response varies with the disease and among patients with the same defect (30). Intakes required to relieve or correct these conditions are well above the RDA. In the genetic disease acrodermatitis enteropathica, which impairs zinc absorption, the need for zinc is three to four times the RDI level (see ChapterJl).

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