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Garrod’s Croonian Lectures (1908) and the charter ‘Inborn Errors of Metabolism’: Albinism, alkaptonuria, cystinuria, and pentosuria at age 100 in 2008

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Journal of Inherited Metabolic Disease

Summary

Garrod presented his concept of ‘the inborn error of metabolism’ in the 1908 Croonian Lectures to the Royal College of Physicians (London); he used albinism, alkaptonuria, cystinuria and pentosuria to illustrate. His lectures are perceived today as landmarks in the history of biochemistry, genetics and medicine. Garrod gave evidence for the dynamic nature of metabolism by showing involvement of normal metabolites in normal pathways made variant by Mendelian inheritance. His concepts and evidence were salient primarily among biochemists, controversial among geneticists because biometricians were dominant over Mendelists, and least salient among physicians who were not attracted to rare hereditary ‘traits’. In 2008, at the centennial of Garrod’s Croonian Lectures, each charter inborn error of metabolism has acquired its own genomic locus, a cloned gene, a repertoire of annotated phenotype-modifying alleles, a gene product with known structure and function, and altered function in the Mendelian variant.

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  1. Departments of Human Genetics, Pediatrics, Biochemistry, and Biology, McGill University, Montreal, Canada

    Charles R. Scriver

  2. Department of Medical Genetics, McGill University Health Centre, Montreal, Canada

    Charles R. Scriver

  3. Montreal Children’s Hospital Research Institute, 2300 Tupper Street, Montreal, Quebec, H3H 1P3, Canada

    Charles R. Scriver

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Scriver, C.R. Garrod’s Croonian Lectures (1908) and the charter ‘Inborn Errors of Metabolism’: Albinism, alkaptonuria, cystinuria, and pentosuria at age 100 in 2008. J Inherit Metab Dis 31, 580–598 (2008). https://doi.org/10.1007/s10545-008-0984-9

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