Abstract
We generally think of a genetic disease as a disease that is genetically caused or as a disease for which the genetic cause is more important than environmental causes. Diseases like PKU (phenylketonuria) and lactose intolerance, for instance, are classified as genetic, because they are caused by enzyme deficiencies which are due to genetic defects. In both cases the absence of a gene (or the absence of a gene with an adequate structure) leads to the absence of an enzyme that is able to counteract a harmful substance. The substance, phenylalanine or lactose, accumulates and damages the organism.
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© 1984 D. Reidel Publishing Company
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Hesslow, G. (1984). What is a Genetic Disease? On the Relative Importance of Causes. In: Nordenfelt, L., Lindahl, B.I.B. (eds) Health, Disease, and Causal Explanations in Medicine. Philosophy and Medicine, vol 16. Springer, Dordrecht. https://doi.org/10.1007/978-94-009-6283-5_21
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DOI: https://doi.org/10.1007/978-94-009-6283-5_21
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