Doctor explains Fabry Disease | Symptoms, barriers to diagnosis and more

In this video, Dr O'Donovan, in partnership with Amicus Therapeutics, sits down with Loretta MacInnes, living with Fabry disease, to discuss the key signs and symptoms and the barriers that often delay diagnosis. What is Fabry Disease? Fabry disease is a rare, progressive genetic disorder caused by a mutation in the GLA gene, leading to a deficiency of the enzyme alpha galactosidase A. This enzyme is essential for breaking down a type of fat called glycolipids. Without proper enzyme function, these fats accumulate in certain cells, affecting vital organs such as the heart, kidneys, brain, skin, and eyes. Fabry disease is part of a group of conditions known as lysosomal storage disorders. If you are a healthcare provider, for more information visit: https://amicuseducation.co.uk/about-f... If you are a patient, for more information and extra resources please visit: https://www.fabrynetwork.org/ Video made: March 2025 Disclaimer: The video was sponsored/paid for by Amicus Therapeutics and is intended as an EDUCATIONAL resource only. The information within this video or on this channel is NOT designed to replace professional input, so if you have any medical issues please consult a medical provider. No professional relationship is being created by watching this video. Dr. O’Donovan cannot give any individual medical advice. All information should be verified for accuracy by the individual user. Neither Amicus Therapeutics nor Dr O’Donovan accept responsibility for individual interpretation of data, although it is always accurate to the best of their knowledge at the time of the video being published. This is an EDUCATIONAL video. Images are used in accordance with fair use guidelines. Legal information: Content provided via YouTube is for general information purposes ONLY. Information videos are not produced to provide individualised medical advice. Medical education videos on Doctor O'Donovan Medical Education Limited are not a substitute for professional medical advice, diagnosis or treatment. NEVER ignore professional medical advice because of something you have heard here. ALWAYS consult your doctor regarding any concerns about your condition or treatment. Information is accurate to the best of Doctor O'Donovan Medical Education Limited knowledge but may have errors or omissions - these are unintended and if raised the video will be reviewed in full. NP-NN-IN-00010325 #Ad #SponsoredbyAmicusTherapeutics #Fabrydisease #raredisease #CouldItBeFabry