Although humans lack the capacity to synthesize essential vitamin molecules, they are nonetheless able to use them in a series of complex chemical reactions involved in intestinal absorption, transport in the plasma, entry into the organelles of many organs, activation of the vitamin into coenzyme, and, finally, their interaction with certain specific apoenzyme proteins. This compels consideration of another aspect of nutrition wherein one or more of these steps in vitamin utilization may be defective because of a genetic abnormality. Under these circumstances, the signs of vitamin deficiency result not from vitamin deficiency in the diet but from a genetically deranged control mechanism. In some instances, the defect is only quantitative, and by loading the organism with a great excess of the vitamin in question, the biochemical abnormality can be overcome. The aforementioned special type of vitamin E deficiency that results from an inherited inability to incorporate the vitamin into lipoproteins falls into this category, the diseases of which, being of hereditary type, have already been described in Chap. 36. Rosenberg has listed the most important of these hereditary vitamin- responsive diseases, which we have abstracted for the reader in Table 40-3.
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