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Inborn Errors of Metabolism

Inborn Errors of Metabolism It is 51 years since Sir Archibald Garrod coined the term "inborn errors of metabolism." In 1908 Sir Archibald was able to describe four inherited metabolic disorders: cystinuria, alkaptonuria, albinism, and pentosuria. Perhaps some measure of the advances that have been made in understanding the genetics and biochemistry of metabolic disorders is afforded by noting that the author is able to discuss 84 diseases under the same title in this monograph. Progress in this area has reached the point where it has become difficult to define the borders of this field. Studies of chromosome structure and of the chemical composition of the genic material have led to the concept that all inherited characteristics must have a biochemical basis. Each gene probably represents a specific molecular configuration and must produce its effect, whether normal or abnormal, by initiating a chain of chemical reactions within the cell nucleus. In this broad view, http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png JAMA American Medical Association

Inborn Errors of Metabolism

JAMA , Volume 171 (4) – Sep 26, 1959

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Publisher
American Medical Association
Copyright
Copyright © 1959 American Medical Association. All Rights Reserved. Applicable FARS/DFARS Restrictions Apply to Government Use.
ISSN
0098-7484
eISSN
1538-3598
DOI
10.1001/jama.1959.03010220114025
Publisher site
See Article on Publisher Site

Abstract

It is 51 years since Sir Archibald Garrod coined the term "inborn errors of metabolism." In 1908 Sir Archibald was able to describe four inherited metabolic disorders: cystinuria, alkaptonuria, albinism, and pentosuria. Perhaps some measure of the advances that have been made in understanding the genetics and biochemistry of metabolic disorders is afforded by noting that the author is able to discuss 84 diseases under the same title in this monograph. Progress in this area has reached the point where it has become difficult to define the borders of this field. Studies of chromosome structure and of the chemical composition of the genic material have led to the concept that all inherited characteristics must have a biochemical basis. Each gene probably represents a specific molecular configuration and must produce its effect, whether normal or abnormal, by initiating a chain of chemical reactions within the cell nucleus. In this broad view,

Journal

JAMAAmerican Medical Association

Published: Sep 26, 1959

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