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On the Genetic Etiology of Scurvy

Published online by Cambridge University Press:  01 August 2014

Irwin Stone
Irwin Stone*
Affiliation:
Staten Island, New York
*
208 Winchester Ave., Staten Island, N. Y. 10312, U.S.A.

Summary

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Scurvy, now regarded as a nutritional disorder due to the lack of the trace food constituent, vitamin C, is shown to be the end result of a typical genetic disease. This genetic disease syndrome has been named Hypoascorbemia. Its primary cause is the hereditary lack of — or defect in — the gene controlling the synthesis of the enzyme, L-gulonolactone oxidase. This is a mammalian liver enzyme, the last one in the series for converting glucose into ascorbic acid. Man is one of the few mammals that lacks this enzyme and hence is unable to sythesize his own ascorbic acid. The gene defect occurred during the course of evolution by a conditional lethal mutation. The replacement of the present vitamin C theory regarding the etiology of scurvy by this genetic concept gives important new viewpoints to the quantitative aspects of ascorbic acid in human physiology and also provides new rationales for the use of high levels of ascorbic acid in normal physiology and in the therapy of clinical entities other than scurvy.

Information

Type
Research Article
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 15 , Issue 4 , September 1966 , pp. 345 - 350
Copyright
Copyright © The International Society for Twin Studies 1966

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