Archibald Garrod

British physician and pioneer in the field of inborn errors of metabolism

Archibald Garrod

Archibald Edward Garrod (25 November 1857 – 28 March 1936) was a British physician who is best known for his pioneering work in the field of inborn errors of metabolism. His research laid the foundation for the understanding of genetic disorders and the role of enzymes in metabolic pathways.

Early life and education

Archibald Garrod was born in London, the fourth son of Sir Alfred Baring Garrod, a noted physician. He was educated at Marlborough College and later attended Christ Church, Oxford, where he studied natural sciences. Garrod completed his medical training at St Bartholomew's Hospital in London.

Medical career

Garrod began his medical career at St Bartholomew's Hospital, where he developed an interest in biochemistry and genetics. He was appointed as a physician at the Hospital for Sick Children, Great Ormond Street and later at the Royal Free Hospital.

Inborn errors of metabolism

Garrod's most significant contribution to medicine was his work on inborn errors of metabolism. He proposed that certain diseases were the result of inherited defects in metabolic pathways, which he termed "inborn errors of metabolism." His studies on conditions such as alkaptonuria, cystinuria, pentosuria, and albinism demonstrated that these disorders were inherited in a Mendelian fashion.

Alkaptonuria

Garrod's research on alkaptonuria, a condition characterized by the accumulation of homogentisic acid in the body, was groundbreaking. He observed that the disease was more common in children of consanguineous marriages, suggesting a genetic basis. Garrod's work on alkaptonuria was one of the first to link a specific genetic defect to a metabolic disorder.

The concept of "chemical individuality"

Garrod introduced the concept of "chemical individuality," which posited that each person has a unique biochemical makeup. This idea was revolutionary at the time and laid the groundwork for the field of personalized medicine.

Later life and legacy

Garrod continued to work on metabolic disorders throughout his career, publishing several influential books and papers. His work inspired future generations of scientists and physicians to explore the genetic basis of disease. Garrod's legacy is evident in the modern understanding of genetic disorders and the development of genetic testing and gene therapy.

Related pages

• Genetics
• Metabolism
• Enzyme
• Genetic disorder
• Personalized medicine