Screening for Inborn Errors of Metabolism Associated with Mental Deficiency or Neurologic Disorders or Both
- 17 February 1966
- journal article
- Published by Massachusetts Medical Society in New England Journal of Medicine
- Vol. 274 (7) , 384-387
- https://doi.org/10.1056/nejm196602172740705
Abstract
THE term "inborn error of metabolism" was first coined by Garrod1 in 1908, when he described alkaptonuria, albinism, pentosuria and cystinuria as a group of diseases that tended to occur in families, especially when there was consanguinity. He postulated that each disease was due to a block in the normal metabolic pathway. The concept of "one gene-one enzyme" was formulated by Beadle2 in 1945 as a result of his work and studies on eye color in the fruit fly, drosophila. And, finally, the "one gene-one enzyme-one disease" sequence was demonstrated by Cori and Cori3 in 1952 in their work on . . .Keywords
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