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The first case of erythropoietic porphyria was reported in 1870, and the first with acute porphyria in 1889. Photosensitisation by porphyrin was confirmed by Meyer\u2010Betz, who self\u2010injected haematoporphyrin. G\u00fcnther classified porphyrias into haematoporphyria acuta, acuta toxica, congenita and chronica. This was revised by Waldenstr\u00f6m into porphyria congenita, acuta and cutanea tarda, with the latter describing those with late\u2010onset skin lesions. Waldenstr\u00f6m was the first to recognise porphobilinogen's association with acute porphyria, although its structure was not solved until 1953. Hans Fischer was awarded the Nobel prize in 1930 for solving the structure of porphyrins and the synthesis of haemin. After 1945, research by several groups elucidated the pathway of haem biosynthesis and its negative feedback regulation by haem. By 1961, following the work of Watson, Schmid, Rimington, Goldberg, Dean, Magnus and others, aided by the availability of modern techniques of porphyrin separation, six of the porphyrias were identified and classified as erythropoietic or hepatic. The seventh, 5\u2010aminolaevulinate dehydratase deficiency porphyria, was described by Doss in 1979. The discovery of increased hepatic 5\u2010aminolaevulinate synthase activity in acute porphyria led to development of haematin as a treatment for acute attacks. By 2000, all the haem biosynthesis genes were cloned, sequenced and assigned to chromosomes and disease\u2010specific mutations identified in all inherited porphyrias. These advances have allowed definitive family studies and development of new treatments.<\/jats:p>","DOI":"10.1111\/liv.15960","type":"journal-article","created":{"date-parts":[[2024,5,20]],"date-time":"2024-05-20T10:38:37Z","timestamp":1716201517000},"page":"2144-2155","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["From chemistry to genomics: A concise history of the porphyrias"],"prefix":"10.1111","volume":"44","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0290-2828","authenticated-orcid":false,"given":"Michael N.","family":"Badminton","sequence":"first","affiliation":[{"name":"School of Medicine Cardiff University  Cardiff UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karl E.","family":"Anderson","sequence":"additional","affiliation":[{"name":"Division of Gastroenterology and Hepatology, Department of Internal Medicine University of Texas Medical Branch  Galveston Texas 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