Related Experiment Video
Updated: Aug 5, 2026

One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure
Published on: June 25, 2010
Sir Archibald Garrod and alkaptonuria -'story of metabolic genetics'
1Department of Pediatrics, London Health Sciences Center, University of Western Ontario, London, Ontario, Canada. chitra.prasad@lhsc.on.ca
Abstract:
Clinical disorders have intrigued the human mind for thousands of years. Many are enshrined in history as 'medical curiosities'. This report is a tribute to one of the greatest minds of modern genetics and medicine, Sir Archibald Edward Garrod (1857--1936), who brought forward the scientific study of inborn errors of metabolism. Garrod's concept of 'chemical individuality' with no awareness of 'genes' more than 100 years ago is an amazing example of futuristic thinking. His own words reflect this, 'Owing, as I believe, to their chemical individuality different human beings differ widely in their liability to individual maladies, and to some extent in the signs and symptoms which they exhibit'. The concept of chemical individuality is here to stay. Garrod has also provided insight into a number of scientific concepts and modern thinking.
Related Concept Videos
Incomplete Dominance
Lethal Alleles
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
Allosteric Proteins-ATCase
Aspartate transcarbamoylase (ATCase) is a cytosolic enzyme that catalyzes the condensation of L-aspartate and carbamoyl phosphate to N-carbamoyl-L-aspartate. This reaction is the first step in pyrimidine biosynthesis. UTP and CTP, the end products of the pyrimidine synthesis pathway,...
Inborn Errors of Metabolism
Pharmacogenetics of Phase II Enzymes: N-acetyltransferase, Thiopurine S-methyltransferase, UDP-glucuronosyltransferase
Amino Acid Biosynthetic Pathways

