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The inborn errors of metabolism: general aspects 

The inborn errors of metabolism: general aspects
Chapter:
The inborn errors of metabolism: general aspects
Author(s):

Richard W.E. Watts

and T.M. Cox

DOI:
10.1093/med/9780199204854.003.1201_update_001

Update:

Significant alterations have been made throughout this chapter to reflect recent developments in our understanding of the genome, inborn errors of metabolism, and potential treatments.

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date: 25 October 2020

Historical perspective—inborn errors of metabolism were first recognized by Archibald Garrod, whose studies illustrated the dynamic aspects of human biochemistry and how unitary hereditary factors caused variation in the turnover of physiological metabolites derived from dietary components. He proposed that the activity of enzymes involved in human metabolism (e.g. of tyrosine degradation) were subject to control by specific genes, and several of the disorders studied by him were subsequently shown to be the result of block at some point in normal metabolism. He also noted the importance of consanguinity in the clinical expression of rare genetic variants which behave as recessive human disease traits....

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