GENETIC DISEASE HYPOASCORBEMIA - A FRESH APPROACH TO AN ANCIENT DISEASE AND SOME OF ITS MEDICAL IMPLICATIONS

It was shown that the human requirement for exogenous ascorbic acid and the disease, scurvy, are the result of a typical genetic disease syndrome caused by a defect on the gene controlling the synthesis of the enzyme protein, L-gulonolactone oxidase. The lack of this active enzyme in the human liver prevents man from producing his own ascorbic acid; a synthesis which is regularly carried out by nearly all other mammals. This genetic disease has been named, Hypoascorbemia. This new concept of the genetic etiology of scuvy gives a much broader outlook and opens perspectives which were lacking in the previous 50 yr. old nutritional or trace "vitamin C" hypothesis. "Correction" of this genetic defect in man is now possible since the availablity of ascorbic acid in large quantities. By correction is meant the long-term administration of ascorbic acid in the large amounts the human liver would by synthesizing had this genetic defect not occurred. The mammals have long used the increased liver biosynthesis of ascorbic acid, under stress, to maintain homeostasis. The genetic defect prevents humans from utilizing this important mammalian biochemical protective mechanism. Supplying exogenous ascorbic acid at the proper high dosage for full "correction" is merely duplicating a normal mammalian reaction. The medical implications of the full "correction" of this genetic disease are discussed and speculations on the effects of correction in the rheumatoid diseases, cardiovascular conditions, strokes, cancer and the aging process are extrapolated from the meager data already in the medical literature.