Phenylketonuria: Epitome of Human Biochemical Genetics
- 4 December 1980
- journal article
- review article
- Published by Massachusetts Medical Society in New England Journal of Medicine
- Vol. 303 (23), 1336-1342
- https://doi.org/10.1056/nejm198012043032305
Abstract
IN the half century since Følling's original description, 1 phenylketonuria (PKU) has become a classic example of a genetic disorder because it illustrates three historic principles of human and medical genetics.2 First of all, the disease is inherited as an autosomal-recessive trait according to Mendel's law of segregation, and it is listed (as entry 26160) in the modern catalogs of Mendelian Inheritance in Man. 3 Secondly, PKU is an "inborn error of metabolism," and it illustrates Garrod's cardinal principle of gene action: genetic factors specify chemical reactions and human biochemical individuality.4 The extensive clinical and biochemical heterogeneity of the hyperphenylalaninemias of . . .Keywords
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