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Which four inherited conditions did Archibald Garrod identify as inborn errors of metabolism?
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metabolic disease
Enzyme defects in urea cycle disorders.
In 1908, British physician Sir Archibald Garrod identified four inherited conditions that he termed "inborn errors of metabolism," postulating that they were caused by defects in specific biochemical pathways due to the absence or diminished activity of an enzyme.1
The four conditions he identified are:
While Garrodās work provided a foundational conceptual advance for the field of biochemical genetics, it is noted that his original categorization of cystinuria as an inborn error of metabolism was later determined to be incorrect.1