Clinical Overview of Refsum Disease

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Professor Anthony Wierzbicki, PhD from the Guy’s & St. Thomas Hospital in London will be providing a Clinical
Overview of Refsum Disease

Adult Refsum disease is a metabolic disorder caused by a number of faulty genes (principally PHYH) which affect the pathway that degrades a plant-derived chemical called phytol which some bacteria found in ruminant animals turn into Phytanic Acid. In humans if phytanic acid is not degraded it accumulates in nerves, liver and fat. Phytanic acid is not produced in the body but found in many foods. The highest concentration of phytanic acid is found in dairy products, beef, lamb and some fish.

Presenter from the Guy’s & St. Thomas Hospital:
Professor Anthony Wierzbicki, PhD iis consultant in metabolic medicine/chemical pathology at Guy’s & St. Thomas’ Hospitals and honorary Professor in Cardiometabolic Disease at King’s College, London. He has worked in the Refsum disease clinic at the Westminster later Chelsea & Westminster Hospital and now St Thomas’ Hospital since 1994. He has published 20 papers on Refsum disease and was a member of the EU FP7 RDDPT consortium that clarified much of the clinical, biochemical and genetic features of Refsum disease. He has 300 publications, 19 book chapters and written 1 book. He helped write the International guidelines on Familial Hypercholesterolaemia (2014) and the American Heart Association scientific consensus statement on Familial Hypercholesterolemia (2015)