👤 whose
Whose work first linked single-gene mutations to inherited metabolic disease?
Human BiologyMedical Genetics
Quick Answer
Archibald Garrod connected inherited disorders with specific biochemical defects in the early 1900s. He is often called a pioneer of biochemical genetics.
The Full Story
Archibald Garrod, a British physician, proposed in 1902 that certain inherited diseases result from missing or faulty enzymes in metabolic pathways. His study of alkaptonuria showed that a single inherited change could block a chemical step in the body. This was a major step toward understanding that genes control proteins and metabolism. Garrod’s ideas later helped shape modern medical genetics and the study of inborn errors of metabolism.
Key Facts
1.Garrod published his work on alkaptonuria in 1902
2.His concept was called “inborn errors of metabolism”
3.He is regarded as a founder of biochemical genetics
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Suggested video title for this topic:
"The doctor who realized genes can break metabolism"