@jimd-editors.bsky.social
The Journal of Inherited Metabolic Disease (JIMD) is the official journal of the Society for the Study of Inborn Errors of Metabolism (SSIEM). Social Media maintained by James Nurse
Pharmacological chaperones for OTC deficiency, can small molecules stabilise urea-cycle enzymes and offer a new therapy?
Dr Alexander Laemmle joins me to discuss how iPSC-derived hepatocytes are bringing bench research closer to the clinic.
soundcloud.com/user-1090061...
New: Priya Kishnani et al. revisit the genetics of hypophosphatasia — from inheritance patterns to the challenges of heterozygote disease and variant reclassification.
Essential update for anyone diagnosing or managing HPP.
#Hypophosphatasia #ThinkMetabolic
onlinelibrary.wiley.com/doi/10.1002/...
Splenic artery aneurysm is a rare but dangerous complication of Gaucher disease.
🧬 Prevalence ~2.1% (2x higher than general population)
⚠️ Often linked to lack of ERT/SRT
💡 Routine splenic artery imaging may save lives
New study 👉 doi.org/10.1002/jmd2...
#Gaucher #RareDisease #JIMDReports
Newborn screening saves lives in classic isovaleric aciduria.
📉 Mortality: 1.1% vs 10.9%
🧠 Developmental delay: 6.1% vs 51.2%
⚡ Earlier treatment start: 10 days vs 626 days
Meta-analysis of 240 cases across 23 countries.
👉 doi.org/10.1002/jimd...
#RareDisease #NewbornScreening
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
