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The Genetic Disease, Hypoascorbemia: A Fresh Approach to an Ancient Disease and Some of its Medical Implications

Published online by Cambridge University Press:  01 August 2014

Irwin Stone
Irwin Stone*
Affiliation:
Staten Island, New York

Summary

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It has been recently 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 scurvy gives a much broader outlook and opens perspectives which were lacking in the previous fifty year old nutritional or trace “vitamin C” hypothesis. “Correction” of this genetic defect in Man is now possible since the availability 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 be 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. This paper is mainly a plea for more thought along the medical possibilities opened by this new concept and for more clinical tests based on the rationales derived from the genetic disease viewpoint.

Type
Research Article
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 16 , Issue 1 , January 1967 , pp. 52 - 62
Copyright
Copyright © The International Society for Twin Studies 1967

References

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