Treatment of Genetic Disease

JAMA. 1966;198(11):42. doi:10.1001/jama.1966.03110240016008.
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Treatment genetic diseases is one of the major advances in medicine of the past decade, says Lloyd H. Smith, Jr., MD, professor and chairman of the Department of Medicine, University of California School of Medicine.

Dr. Smith told the Clinical Convention that disease due to genetic legacy has become increasingly important with the improvement in environment and consequent decrease of environmentally caused disease.

"This is true whether it involves a well-defined genetic lesion or merely an increased propensity toward a disease," Dr. Smith said.

During the past 20 years much insight has been gained into the biochemical basis of genetic disease and its phenotypic expression as an enzyme deficiency.

In general, there are three ways in which an inherited enzyme defect can result in an abnormality.

There may accumulate a substrate which would otherwise be acted upon by the absent or defective enzyme; the excess substrate may be toxic.



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