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Chapter 3: The Inborn Error and Biochemical Individuality

Contributors: Barton Childs, David Valle, Gerardo Jimenez-Sanchez

Abstract

Archibald Garrod recognized that alkaptonuria was a disorder reflecting Mendelian inheritance in the human population. In 1902, that was an observation with remarkable insight. Garrod called this and three other Mendelian disorders (cystinuria, pentosuria, and albanism) examples of human biochemical individuality. Another 50 years would elapse before our understanding of the inborn errors of metabolism would lead to a field of inquiry called “human biochemical genetics.” The growth of knowledge in this field, in the latter half of the 20th century, is reflected in the expansion of information in The Metabolic and Molecular Bases of Inherited Disease.


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