🎙️ New JIMD Podcast Are infections and cytopenias in organic acidemias simply consequences of metabolic crises or part of the underlying disease? Abdul L. Shakerdi and Jerry Vockley explore the emerging link between metabolism, inflammation and immunity. open.spotify.com/episode/5pL1...

One rare diagnosis doesn’t necessarily explain everything. A new #JIMDReports case describes MPS I diagnosed in a patient with Wolf–Hirschhorn syndrome, a striking example of diagnostic overshadowing in rare disease. doi.org/10.1002/jmd2... #MPSI #RareDisease

🇧🇷 New in #JIMDReports A Brazilian cohort provides new insights into the clinical & molecular spectrum of Glut1 deficiency syndrome—a potentially treatable neurometabolic disorder where recognition matters. 🔗 doi.org/10.1002/jmd2... #Glut1DS #RareDisease

Turn CLPP up or down? Activation has reached cancer treatment; reduced activity shows promise in experimental mitochondrial disease models. Lea Isermann & Aleksandra Trifunovic explore this therapeutic duality in JIMD. doi.org/10.1002/jimd... #MitochondrialDisease

Less cornstarch, maintained glucose control: the phase 3 DTX401 gene therapy trial in #GSDIa found a 41% reduction in daily cornstarch intake at 48 weeks versus 10% with placebo. A step towards reducing treatment burden. doi.org/10.1002/jimd...

Can lactate after a 12-min walk help diagnose mitochondrial myopathy? Patients walked shorter distances, but exercise and recovery lactate responses did not distinguish them from healthy controls. A poor diagnostic biomarker but potentially a useful outcome measure. doi.org/10.1002/jmd2...

In this JIMD Shortcast, Dr Eamon McCarron presents a challenging pregnancy in a woman with lysinuric protein intolerance complicated by immune dysregulation and severe thrombocytopenia. Hear how MDT care supported a favourable outcome for both mother and baby. open.spotify.com/episode/4SHC...

15 years of “IBS” before a diagnosis of ACSF3-related CMAMMA. The case also has an interesting dietary twist: conventional MMA-style high-carbohydrate/protein-restricted advice worsened the GI symptoms. New in #JIMDReports: doi.org/10.1002/jmd2...

New JIMD Reports Shortcast 🎧 Dan Ross Brooks & Fernando Scaglia discuss PNPT1-related mitochondrial disease, type I interferon activation and the potential of JAK inhibition with tofacitinib. Listen: soundcloud.com/user-1090061... #mitomedicine #interferonopathy

Final, and thankfully final, dispatch from Helsinki! James & Silvia look back at Thursday, preview Friday and speak to Ina Knerr about Dublin 2027. With Tumelo Satekge, Tim Fazio, Miriam Güra, Caroline Glatthard & Elif İşler Soylu. 🎧 on.soundcloud.com/pZ2JpVMKAryP... #SSIEM2026

Lysosomal disorders are more than diseases of substrate storage. McCarron et al. identify 108 disorders across 11 pathomechanistic categories offering a biologically informed framework for diagnosis, genomic interpretation and mechanism-based therapy. doi.org/10.1002/jimd...

Ep 4 from #SSIEM2026 🇫🇮 Guests! Posters! FAOD! NPC! Physics! And Dr Nazi Tabatadze gives James a geography lesson while discussing IMD care in Georgia 🇬🇪 Plus: apparently we carry enough fat energy for 40 marathons. No excuses at Run Club. 🏃 🎧 on.soundcloud.com/x802Ph8JOaXP...

Infusion reactions and antidrug antibodies can complicate enzyme replacement therapy in #FabryDisease. New in #JIMD: Janssens et al. examine their occurrence and whether preventive measures can reduce the risk. 🔗 doi.org/10.1002/jimd...

Listening to the excellent @jimd-editors.bsky.social podcast previewing the SSIEM 2026 symposium in Helsinki that I am excitedly on my way to. #ssiem2026 open.spotify.com/episode/5aZA.... It is soothing my nerves as the British railway network slows my journey to Heathrow 🤣

Helsinki: Day 0 - Saunas, sequencing and special sessions

JIMD Podcasts · Episode

open.spotify.com

🎙️ What does Phe exposure actually do to the adult brain in #PKU? Raphaela Muri & Roman Trepp join the JIMD Podcast to discuss MRI changes, reversibility, cognition — and whether their latest findings really suggest altered brain ageing. on.soundcloud.com/4t8UjUZKGEyo... #JIMD #Phenylketonuria

🇫🇮 The #SSIEM2026 Abstract Book is HERE. With Helsinki just over a week away, start exploring the science before the meeting begins: oral communications, posters, e-posters & more across 27 areas of metabolic medicine. 📖 onlinelibrary.wiley.com/doi/epdf/10.... 25–28 August | Helsinki #JIMD #SSIEM

Pregnancy is a metabolic challenge. This report shares real-world experience of managing pregnancy in women with fructose 1,6-bisphosphatase deficiency where avoiding fasting and metabolic decompensation takes on a whole new importance. doi.org/10.1002/jmd2... #RareDisease #Pregnancy #IMD

Sterol and bile acid synthesis disorders: why are patients still missed, and how can biomarkers, newborn screening and new treatments change that? Silvia and Rodrigo are joined by Andrea DeBarber and Robert Steiner for the latest Research Round-Up. 🎧 podcasts.apple.com/gb/podcast/j...

MCADD ≠ always hypoketotic hypoglycaemia. This JIMD Reports case describes neonatal ketoacidosis as the presenting feature of MCAD deficiency, an important reminder that inherited metabolic disorders don’t always follow the textbook. doi.org/10.1002/jmd2... #MCADD #Neonatology #RareDisease #MedEd

Koga et al report that Baat-deficient mice reproduce the elevated serum 7-HOCA seen in a patient with BAAT deficiency, suggesting the disorder involves broader disruption of bile acid homeostasis than impaired conjugation alone. doi.org/10.1002/jimd...

How reliable is the classic PKU mouse model? Cao et al. review behavioural phenotyping of the Pah(enu2) mouse—highlighting reproducible findings, inconsistent results and priorities for future preclinical PKU research. doi.org/10.1002/jimd... #PKU #JIMD #RareDisease

New JIMD Podcast: can metabolic nutrition move beyond biochemical control towards lifelong health? Júlio César Rocha, Anne Daly & Anita MacDonald discuss protein substitutes, new therapies, point-of-care testing and AI. open.spotify.com/episode/5gAB... or wherever you like to listen

Adult neurometabolic medicine is growing rapidly. In this Swedish cohort of 59 adults: 🧬 32 different disorders 💊 65% received disease-specific treatment 🏥 84% remained under specialist follow-up 🏡 27% were fully independent doi.org/10.1002/jmd2...

Metabolic Mysteries Neonatal seizures then, years later, seizures, behavioural change, tremor, myoclonus and unusual eye movements. The diagnosis seems to be pointing in one direction. But is it? Mrinmayee Takle & Kuntal Sen help us unravel the case. podcasts.apple.com/gb/podcast/j...

New in #JIMDReports: 5-year follow-up of two siblings with Morquio A syndrome who started ERT at very different ages. Earlier treatment may benefit severe cervical manifestations, but skeletal disease remains a challenge. Choi et al. doi.org/10.1002/jmd2... #MorquioA #MPS

Neonatal acute liver failure due to citrin deficiency (NALFCD) is the focus of this new #JIMDReports case from Hoi-Yin Chan et al doi.org/10.1002/jmd2... #NewbornScreening #CitrinDeficiency #MetabolicMedicine #RareDisease

Can classical #Homocystinuria affect the aorta? This case describes the first reported thoracic aortic dissection in a patient with classical homocystinuria and asks whether selected patients may benefit from aortic surveillance. doi.org/10.1002/jmd2... #RareDisease #Cardiology #MetabolicMedicine

How does hepatic GSD IX evolve with age? In 89 UK patients, disease burden often eased over time but IXγ2 followed a more severe course with greater lifelong treatment needs. The study also reports 49 novel alleles. Halligan, Sanders, Selvanathan et al. doi.org/10.1002/jimd...

Are we still missing inherited metabolic disease or starting to diagnose people who may never become unwell? Nina Gold, Jessica Gold and Mirjam Langeveld join the #JIMDPodcast to debate late diagnosis, genomic newborn screening and the burden of uncertain risk. open.spotify.com/episode/7cMB...

PKU may be one of the oldest recognised inherited metabolic disorders, but research continues to move rapidly. Silvia and Rodrigo are joined by Dr Cary Harding and Dr Wendy Smith to discuss new therapies, updated guidelines and the future of PKU care. on.soundcloud.com/4lNAxogkrYJc... #PKU