An Interactive Annotated World Bibliography of Printed and Digital Works in the History of Medicine and the Life Sciences from Circa 2000 BCE to 2022 by Fielding H. Garrison (1870-1935), Leslie T. Morton (1907-2004), and Jeremy M. Norman (1945- ) Traditionally Known as “Garrison-Morton”

16018 entries, 14076 authors and 1941 subjects. Updated: July 14, 2024

GARROD, Sir Archibald Edward

2 entries
  • 244.1
  • 3921

Inborn errors of metabolism.

London: H. Frowde, 1909.

Garrod established chemical individuality as a paradigm of Mendelian variation. His study, which he began around the turn of the 20th century, coincided with the rediscovery of Mendel's laws of inheritance in 1900. He realized that alkaptonuria (black urine disease) behaves like one of Mendel's recessive genetic traits, and guessed that people with alkaptonuria have a defective gene that produces a faulty enzyme that interrupts an important metabolic pathway. This was the first recognition of the possibility that genes direct the assembly of enzymes, and more specifically, that each gene codes for one enzyme. Over the next few years, Garrod discovered three more metabolic diseases that behave like recessive traits, including albinism. He showed that constitutional variation in function, as well as in structure, can give rise to what he termed “chemical malformations” – alkaptonuria, cystinuria, pentosuria, etc. The book was based on his Croonian Lectures, published in Lancet, 1908, 2, 1-7, 142-8, 173-9, 214-20. A second edition appeared in 1923. It was reprinted with supplement by H. Harris, London, 1963. Garrod’s first paper on the subject dealt with alkaptonuria (Lancet, 1901, 2, 1484-6).



Subjects: GENETICS / HEREDITY › HEREDITARY / CONGENITAL DISEASES OR DISORDERS › Inherited Metabolic Disorders, GENETICS / HEREDITY › HEREDITARY / CONGENITAL DISEASES OR DISORDERS › Inherited Metabolic Disorders › Alkaptonuria, GENETICS / HEREDITY › HEREDITARY / CONGENITAL DISEASES OR DISORDERS › Inherited Metabolic Disorders › Cystinuria, GENETICS / HEREDITY › HEREDITARY / CONGENITAL DISEASES OR DISORDERS › Inherited Metabolic Disorders › Pentosuria, Metabolism & Metabolic Disorders
  • 253.2

The inborn factors in disease.

Oxford: Clarendon Press, 1931.

Garrod argued that chemical individuality could result in individuals having a predisposition to certain diseases. This view has become particularly significant in light of the establishment of recombinant DNA methods to identify inherited genetic defects. Reprint with epilogue by C.R. Scriver and B. Childs, and bibliography of Garrod’s writings, Oxford, Oxford University Press, 1989.



Subjects: GENETICS / HEREDITY › HEREDITARY / CONGENITAL DISEASES OR DISORDERS