Арчибальд Гаррод: Жизнь и научные открытия английского врача.

English physician

Sir Archibald Edward Garrod

Archibald was the fourth son of Sir Alfred Baring Garrod, a renowned physician who received his medical degree at the age of 23 and became a professor of medicine at University College, London by the time he was 32. He discovered the abnormal uric acid metabolism associated with gout. Garrod's eldest brother Alfred Henry Garrod was a successful ornithologist that named a number of bird taxa and studied specimens from the Challenger Expedition; Herbert Baring Garrod, his other elder brother also had a successful career, both as a barrister at law and as a scholar, writing "Dante, Goethe's Faust, and Other Lectures". Charles Keene, a cousin, frequently visited Garrod's childhood home. Keene was an illustrator for the magazine Punch for over 40 years. Influenced by Keene, Garrod wrote an illustrated booklet called A Handbook of Classical Architecture. According to Krishna Dronamraju, Garrod displayed an interest in natural history from an early age and was particularly interested in butterflies. At the age of 12, he began collecting them and noted how few female butterflies were present, musing over possible inheritance patterns in mammals. He was educated at Marlborough College and Christ Church, University of Oxford. He performed poorly at Marlborough, struggling due to his lack of interest in classics, especially Latin prose and grammar. He graduated with a First class Honours (or a "First") degree in natural science in 1878.

During the First World War, Garrod served as medical consultant to the army, primarily in Malta and in 1918 was appointed Knight Commander of the Order of St Michael and St George in recognition of his wartime services. and Alfred Noel Garrod aged 28 in 1916. In 1919, his third son, Basil Rahere Garrod died, aged 21, in Cologne during the Spanish flu pandemic.

Over the next 20 years he served on the attending staff of several hospitals in London: Marylebone General Dispensary, West London Hospital, St. Bartholomew's Hospital, Great Ormond Street Hospital for Children, and Alexandra Hospital for Children with hip dysplasia. In 1892, he was appointed assistant physician at the Great Ormand Street Hospital. Dronamraju writes, “He was interested in studies of normal and pathological urine, especially in differences of their coloration. It is of interest that his interest in butterflies and flowers in childhood was also related to color differences and biological variation, and it may well have helped to sharpen his perception in this regard.”

Garrod is best known for his scientific study of inborn errors of metabolism. He developed an increasing interest in chemical pathology, and investigated urine chemistry as a reflection of systemic metabolism and disease. This research, combined with the new understanding of Mendelian inheritance, evolved from an investigation of a few families with an obscure and not very dangerous disease (alkaptonuria) to the realization that a whole territory of mysterious diseases might be understood as inherited disorders of metabolism. In the 1890s he collaborated with Frederick Gowland Hopkins, a well known and respected London physician and biochemist who studied the concept of how vitamins, then known as “accessory factors”, effect dietary health of patients. Under Hopkins's influence and led by his own childhood fascination with color variations, he took particular notice of how the color of urine changed. In 1897, a mother arrived at the Great Ormand Street Hospital with an infant and a diaper stained brownish black. Dr. Garrod recorded the family history of the baby and kept tabs on the newborn's growth over the years. He quickly began seeking other patients with the same disorder and found forty cases and read up on the disorder, the first instance of which was noted in 1822. Alkaptonuria is a rare familial disease of organic acid metabolism that is best known for the darkening of urine from yellow to brown to black after it is exposed to the air. In later life, individuals with this disease develop arthritis characterized by deposition of brown pigment in joint cartilage and connective tissue. Garrod studied the recurrence patterns in several families, realized it followed an autosomal recessive pattern of inheritance, and postulated that it was caused by a mutation in a gene encoding an enzyme involved in the metabolism of a class of compounds called alkapton. He published The Incidence of Alkaptonuria: a Study in Chemical Individuality in 1902. Over the next decade he developed an understanding of the possible nature of inherited diseases of metabolism. He described the nature of recessive inheritance of most enzyme defects. In 1908, the core of this work was presented as the Croonian Lectures to the Royal College of Physicians, entitled Inborn Errors of Metabolism and published the following year. Garrod expanded his metabolic studies to cover cystinuria, pentosuria, and albinism. These three inborn errors, along with alkaptonuria are collectively called Garrod's tetrad. In 1923 he summarized these studies in an expanded edition of his best known work.

As it became clearer that he had pioneered a new field of medicine, Garrod was increasingly honored in England and abroad. He succeeded William Osler as Regius Professor of Medicine at Oxford. He was elected a Fellow of the Royal Society in 1910,|Archibald Garrod|Archibald Garrod, "The Scientific Spirit in Medicine: Inaugural Sessional Address to the Abernethian Society", St. Bartholomew's Hospital Journal, 20, 19 (1912)