Are #InheritedMetabolicDisorders more common than we think? New review argues genotype-first data reveal IMDs in many “healthy” individuals — challenging assumptions about prevalence, penetrance & screening. What should this mean for clinical care? #ThinkMetabolic #Genomics

🎧 50 years of newborn screening for galactosaemia in Ireland: ✅ Better survival ⚠️ Developmental challenges persist Ina Knerr & Doireann Pereira share long-term insights in a new #JIMD Shortcast. 👉 soundcloud.com/user-1090061... #NewbornScreening #RareDisease

New in JIMD 📖 Study of 79 children with Gaucher disease shows some can be safely monitored without ERT, while others benefit in bone outcomes after therapy. WBLH BMD is key for monitoring. Revel-Vilk et al., 2025 doi.org/10.1002/jimd... #GaucherDisease #ERT #RareDisease

🔹 Bluesky Post (shorter, to fit character limits) New JIMD Podcast 🎙️ Nicole Smith, Olivia Garrett & Judy Fridovich-Keil discuss patterns of long-term outcomes in classic galactosemia, why complications vary, and why they cluster. 🎧 Listen: soundcloud.com/user-1090061... #Galactosemia #RareDisease

New: European practices in managing Tyrosinemia T1 Survey of 32 centers, 16 countries Consistencies: NTBC + diet, AFP & ultrasound, transplant when needed Variations: NTBC dosing, Tyr targets, Phe policies, follow-up Clear need for harmonised European guidance. 👉 doi.org/10.1002/jimd...

🎧 New #Researchroundup! Raymond Wang (CHOC) joins Silvia & Rodrigo to dive into the latest in LSDs: 🔬 Base editing in Pompe 🧬 In vivo gene editing 🩸 Gaucher fibrosis score 🧪 Lipid dysregulation across LSDs 💉 Anakinra in Sanfilippo open.spotify.com/episode/5cTN... #RareDisease

New in JIMD: 17 years of Dutch newborn screening with C5-OH + a global review of 58 studies. ➡️ PPV 38.3%, NPV 100% ➡️ Major overlap in affected/unaffected levels ➡️ Need for better markers/second-tier tests Read here: doi.org/10.1002/jimd...

Long-term follow-up (4–8 yrs) of olipudase alfa ERT in pediatric ASMD shows sustained improvements in organ size, lung function, growth & biochemistry. Safe, well tolerated, no discontinuations. Open access JIMD 🔗 doi.org/10.1002/jimd... #ASMD #OlipudaseAlfa #RareDisease

Biomarkers are key to diagnosing NPC1, tracking progression and proving treatment effect in trials. A new review highlights their central role in regulatory approval and drug development. 📄 doi.org/10.1002/jimd... #NPC1 #Biomarkers #RareDisease

We talk with Detlev Boison about adenosine kinase, an ancient enzyme now seen as an epigenetic drug target. From epilepsy to cancer, could ADK open the door to disease-modifying therapy? Spotify: open.spotify.com/episode/1YRs... Soundcloud: soundcloud.com/user-1090061...

🧠 New JIMD study: MRI in molybdenum cofactor deficiency shows a distinct pattern from HIE, with prognostic features & impact of cPMP therapy. Largest imaging series to date. 🔗 doi.org/10.1002/jimd...

🌏✨ ICIEM 2025 is underway in Kyoto! Not there? With no abstract book + little social media, it’s easy to miss great science. 👉 Sharing a poster/talk? Tag the Journal of Inherited Metabolic Disease and we’ll re-share to boost your reach. #ICIEM2025 #ThinkMetabolic

🎧 New #FootprintsOfIMD episode! Eva Morava chats with Dakota Peacock & Darius Ebrahimi-Fakhari about movement disorders in IMD: from chorea to tremor, diagnosis to long-term care. 🎙️ Listen: open.spotify.com/episode/0xdF... 🔎 Search “JIMD Podcasts” #IMD #neurogenetics

A well neonate, an incidental X-ray finding, and a puzzle that sends the clinical team searching for answers. Dr. Tolufase takes us step by step through this neonatal case of incidental adrenal calcifications. 🎧 Listen here: open.spotify.com/episode/3Lj1... #ThinkMetabolic #RareDisease #IMD

🧬 New review in JIMD: Delivering the Message: Translating mRNA Therapy for Liver Inherited Metabolic Diseases Gurung et al outline key opportunities and hurdles in bringing mRNA therapy into clinical reality for monogenic liver disorders. 🔗 onlinelibrary.wiley.com/doi/10.1002/...

🎙️ New JIMD Podcast! Eva Morava & Irena Muffels are back to ask a massive question: How do we treat all the CDGs? Organoids, AI, basket trials & the three pillars shaping the therapeutic future of congenital disorders of glycosylation. Listen now: soundcloud.com/user-1090061... #CDG #RareDisease

New data from the COMET trial: Switching from alglucosidase alfa to avalglucosidase alfa improved respiratory outcomes in people with late-onset Pompe disease, especially those with worse baseline function. Kishnani et al. doi.org/10.1002/jmd2...

New study suggests high-sensitivity troponin could be a useful early biomarker for cardiomyopathy in Fabry disease, aiding detection of cardiac involvement and guiding care. “The Utility of hs-Troponin to Detect Cardiomyopathy in Fabry Disease” doi.org/10.1002/jmd2...

2 registry studies, 2 different stories Hughes – mostly treatment-naïve, older, milder phenotypes → stable kidney function, low event rates Pisani – switched from long-term ERT, more classic males, more advanced disease → kidney decline, rising lyso-Gb3, doi.org/10.1002/jimd...

New #JIMDPodcast out now! Sabine Fuchs and Eva Hoytema join us to explore the growing and complex world of aminoacyl-tRNA synthetase deficiencies, from diagnostic puzzles to multisystem phenotypes. 🎧 Listen wherever you get your podcasts including Spotify: open.spotify.com/episode/4qpQ...

NBS saves lives – but practice, quality & access vary worldwide. In the latest Round-up Chris Vorster, Sarah Viall & Ulrike Mütze about: •Global differences in screening •Keeping quality high •Expanding scope of testing •Improving access Listen: open.spotify.com/episode/5ePd...

A new study in JIMD uses eNose tech to identify breath profiles in adults with acid sphingomyelinase deficiency (ASMD). While individual biomarkers weren’t pinned down, the method clearly distinguished ASMD patients from controls, offering a path to non-invasive monitoring. doi.org/10.1002/jimd...

💥 New in JIMD: Adolescents with long-chain FAOD remain at risk of debilitating myopathy—even after early diagnosis via newborn screening. Safe but revealing exercise testing shows reduced fat oxidation & variable tolerance, especially in LCHADD. 🔗 doi.org/10.1002/jimd...

🧬 Not all PKU genotypes behave the same — so why treat them the same? This new paper maps PAH activity across 99 genotypes, defining 5 functional subpopulations to guide BH4 testing and treatment. Smart, translational, and openly shared: 👉 onlinelibrary.wiley.com/doi/10.1002/... 🧪

A sweeping, personal 60-year history of inherited metabolic diseases from Jean-Marie Saudubray & Manuel Schiff. Part memoir, part masterclass. Who shaped the field for you—and who’s shaping it now? Read it here: doi.org/10.1002/jimd... #IMD #rarediseases #JIMD #Saudubray #metabolicmedicine

🎧 New JIMD Podcast! Dr Laura Adang joins us to unpack diagnostic delays in MLD—how it presents, why it's missed, and why screening matters now more than ever. Because we might just have a 'cure'. 🔗 open.spotify.com/episode/6mFJ... or search for 'JIMD Podcasts' #MLD #JIMDPodcast #IMD

💥 ICU admission. Rhabdo. Psych history. Muscle weakness. Months of confusion… until someone thought metabolically. 🧪 The result? A treatable inborn error of metabolism 🧠 A masterclass in diagnostic persistence. 💊 And a treatment that costs pennies. Read the full case 👉 doi.org/10.1002/jmd2...

🧪 Can cholic acid be personalised for bile acid synthesis defects? New open-label study explores long-term CA therapy in AMACR & 3β-HSD deficiency. 👶 Good response in children 🧓 More side effects, less benefit in adults ⚠️ Toxic intermediates persist Read: doi.org/10.1002/jimd...

🧠 Vomiting + ataxia 🧪 Mildly raised lactate 🧬 Normal organic acids 💊 Thiamine helps—but why? When the usual tests don’t fit, dig deeper. Can you crack this metabolic mystery? 🔗 onlinelibrary.wiley.com/doi/10.1002/... #IMD #RareDisease #MetabolicMystery #JIMDReports #DiagnosticChallenge

Classic galactosemia meets cell therapy 🧬 This GALT-null rat model shows how bone marrow transplantation could one day aid enzyme restoration—especially in the brain and gonads. Still early days, but intriguing signals. 🔗 doi.org/10.1002/jmd2... #IMD #Galactosemia #RareDisease #MetabolicResearch

Cardiac transplantation may save lives in Barth syndrome—but doesn’t fix exercise tolerance, metabolism or muscle mass. New data underscores need for targeted metabolic therapies. 🔗 doi.org/10.1002/jmd2... #IMD #BarthSyndrome #MitochondrialMedicine

New IMD Research Round-Up! 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/5Vdr... Or search “IMD Research Round-Up” wherever you listen

🧬👁️ New in JIMD: Plasma metabolomics & lipidomics are linked to visual loss in LCHADD. Chung et al identify metabolic markers tied to retinal degeneration offering new insights into tracking and treating vision decline. Read: doi.org/10.1002/jimd... #LCHADD #metabolomics #vision #JIMD #raredisease

🧬 New in JIMD: What if a variant’s impact depends on another variant in the same gene? Oliveira-Madureira et al explore intramolecular epistasis in genetic disease. Fascinating read for anyone working in variant interpretation or rare disease 👇 doi.org/10.1002/jimd...

🎙️ New #JIMDPodcast We’re talking future therapies in classic galactosemia—from big-picture thinking to... purple sweet potatoes? 🥔💜 Join Estela Rubio-Gozalbo, Kent Lai, Synneva Hagen-Lillevik & Bijina Balakrishnan 👉 open.spotify.com/episode/2YsN... Or find us wherever you get your podcasts.

🧬 NBS saves lives, but who’s it really for? Langeveld et al make the case for greater adult IMD specialist involvement in shaping NBS programs. Their review highlights the risks of overdiagnosis, unclear benefit in late-onset cases, and identification of maternal IMDs. doi.org/10.1002/jimd...

💥 New case report alert! A woman with GSD IIIA, focal myocardial fibrosis & a missed AGL variant—successfully navigates pregnancy 👶❤️ ✅ Healthy baby ✅ Key diagnostic lessons (manual WGS!) ✅ Practical antenatal & postpartum insights 📖 onlinelibrary.wiley.com/doi/10.1002/...

🧩 GI bleeding. Cholestasis. Gallbladder polyps. Developmental delay. In the latest Metabolic Mysteries podcast from JIMD, Dr JP Stevens walks us through a challenging case that kept the team guessing. Can you spot the metabolic diagnosis? 🎧 soundcloud.com/user-1090061... #MetabolicMysteries

New in JIMD: Long-read sequencing reveals hidden variants in patients with inherited metabolic disease, expanding the genotypic spectrum and improving diagnosis. 📖 Read: doi.org/10.1002/jimd... #Genomics #RareDisease #IMD #LongReadSequencing

Congratulations!!! This is the only podcast I never miss. I’ve learned so much about IMDs. Thank you Dr. James Nurse for being such an incredible host!

🎉 5 years of the JIMD Podcast! 🎉 Since June 2020: 🎙️ 133 interviews 📚 51+ hours of IMD content 🌍 Listeners in 100+ countries Plus spin-offs: Shortcast Metabolic Mysteries Footprints of IMD Research Round-Up Thanks to every guest & listener. Here’s to 5 more years! 🔗 soundcloud.com/user-109006120

Fascinating new case report of a child with HMG-CoA Synthase-2 deficiency presenting with an initial biochemical profile suggestive of Maple Syrup Urine Disease. Just because it looks like a duck and quacks like a duck, doesn't always make it a duck! onlinelibrary.wiley.com/doi/10.1002/...

🧬 New data on HSCT in alpha-mannosidosis just dropped! 21 children. 11 countries. Safer transplants, fewer infections, better hearing — and promising neurodevelopmental trends with early intervention. 📄 doi.org/10.1002/jimd... #RareDisease #AlphaMannosidosis #HSCT #IMDs #PedsResearch #JIMD

🎧 New podcast 🎙️ Lottie Morison discusses recent insights around speech and language progression and assessment in CLN2 and CLN3 disease. Soundcloud: soundcloud.com/user-1090061... Spotify: open.spotify.com/episode/6sIU... Or search for JIMD Podcasts

New in JIMD Reports 📄 Can blood cells help diagnose and monitor FSASD? This NIH-led study shows free sialic acid is 22–49x higher in leukocytes from patients with FSASD vs controls and other LSDs. A potential minimally invasive biomarker for diagnosis and trials. doi.org/10.1002/jmd2... #FSASD

New paper in JIMD Reports: Multitier testing and collaboration are key to success in newborn screening for LSDs 🧬 Survey of providers reveals persistent challenges around result interpretation — and how clinics are adapting. 🧪 Great resource for centres expanding NBS panels. doi.org/10.1002/jmd2...

🧠 Brain Metabolism Dialogues continues! Join Dr Luis Felipe Barros Olmedo for Talk 3: Brain Energy Metabolism 🗓️ 30 June 2025 | 17:00 CEST 🔗 Register: us06web.zoom.us/webinar/regi... A collaboration between @MetabERN and @SSIEM. #neurometabolism #brainenergy #IMDs

Two pregnancies in GSD Ia, both with preeclampsia & SGA infants. Abnormal placentas, but no GSD-specific histology. Big questions remain. 📖 onlinelibrary.wiley.com/doi/10.1002/... #IMD #Placenta #GSDIa #RareDisease #JIMDReports

Gene editing used in vivo to treat CPS1 deficiency in a child. Editorial by Rahman & Baruteau reflects on what this means for IMDs. 🔗 doi.org/10.1002/jimd... #IMD #GeneEditing #CPS1 #JIMD

🎙️ New JIMD Podcast! Sarah Mele & Travis Johnson walk us through their fly model of ECHS1 deficiency and what valine restriction can (and can’t) do. 🪰 Drosophila as a disease model 🍽️ Nutrigenomics in action 🔬 And more open.spotify.com/episode/6Tb7... Or search “JIMD Podcast” #ECHS1D #RareDisease