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Many of us take our #metabolism for granted. #MCRI's Dr Nicole van Bergen spoke to The Journal of Inherited Metabolic Disease Podcasts about #NAXD deficiency, and how researchers are working to prevent life-threatening symptoms caused by this enzyme repair disorder Listen from 9:11👉 onlinelibrary.wiley.com/page/journal/1…

🎉 We’re off! Day 1 of #BIMDG2025 is live in Edinburgh. From 9:15, dive into parallel sessions: 👶 Trainee cases 🍽️ Dietetics 💊 Pharmacists 🧑‍⚕️ Nurses & Paeds 🧬 Adult IMD Later: ERTs, mT tRNAs, Maggie Lilburn Lecture, & flash talks! #InheritedMetabolicMedicine #IMD

🚨New poster at #BIMDG2025! 🔬 Differentiating primary vs secondary MADD: 💊 Role of riboflavin response, meds (e.g. sertraline), & micronutrient status 🧬 Diagnostic pearls from 13 cases emmachandranath (Murray) Sheffield Children's Belfast Trust Ashley Elliott BIMDG Grainne Connolly

Final thoughts on some 'common' differentials for Recurrent Rhabdomyolysis in Dr Morris' session at #BIMDG2025

What happens when redox goes wrong? Silvia & Rodrigo chat with Luciana Hannibal & Julien Park about unstable metabolites, tough measurements & what it takes to treat redox disorders. 🎧 Listen now → lnkd.in/eqmBbQSy #inheritedmetabolicdisease #redoxdisorders

A number of IMDs are treated with 'nutraceutical' products, non pharmaceutical supplements that are said to have a therapeutic benefit. However, not all supplements are equal and sometimes they not be what they claim to be. #BIMDG2025

Fascinating (and entertaining) presentation from Simon Tapley about trying to support a patient with a Urea Cycle Disorder to undertake an endurance sporting event. There were technical challenges of assessing ammonia rise in response to exercise, alongside other difficulties

Simon high-lights this report from 2018 of a patient who was found ataxic at 30km of a marathon and subsequently passed away. Their liver was transplanted to an individual who subsequently developed acquired OTC deficiency. onlinelibrary.wiley.com/doi/full/10.11… #BIMDG2025

To those who think IMD presentations “must” offer clues in early life. Check out this report of an adult who became seriously unwell during a marathon. James Edelman

Shaken but never stirred, an excellent session on rhabdomyolysis from Dr Andrew Morris.

To screen or not to screen, that IS the question.

🚩 Nice review on red flags in primary mitochondrial diseases. #RareDisease #mitochondria #medtwitter IJMS MDPI mdpi.com/1422-0067/24/2…

🧩 GI bleeding. Cholestasis. Gallbladder polyps. Developmental delay. In the latest Metabolic Mysteries podcast, Dr JP Stevens walks us through a challenging case that kept the team guessing. Can you spot the metabolic diagnosis? 🎧 open.spotify.com/episode/10oPcR… #gastrotwitter

New podcast! Silvia & Rodrigo are joined by Joost Groen & Matt Gentry for a deep dive into glycogen storage disorders – from brain glycogen & AI diagnostics to cancer metabolism & novel therapies. open.spotify.com/episode/5VdrYn… Or search “IMD Research Round-Up” wherever you listen

Deeply shocked and saddened by the passing of our dear friend, colleague and World Health Organization (WHO) Envoy David Nabarro. David was a great champion of global health and health equity, and a wise, generous mentor to countless individuals. His work touched and impacted so many lives across the

⚠️“Natural”≠ Safe A 78yo woman developed life-threatening rhabdomyolysis, kidney failure and respiratory collapse after taking red yeast rice, a popular "natural" supplement for lowering cholesterol 👉Always consult a doctor before starting any supplement frontiersin.org/journals/medic…

💡 From mystery to medicine: Inherited Metabolic Diseases went from fatal puzzles to treatable conditions in just 60 years.This is a story of relentless curiosity, heartbreak and scientific triumph by one of the greatest pioneers: Dr Jean-Marie Saudubray #RareDiseases #MedTwitter