@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
Too much of a good thing? Are we giving our patients too much amino acid mixture in MMA & PA?
New work reviews dietary practice in 71 patients.
AAM use may worsen BCAA imbalance and is linked with poorer nutritional & clinical scores, despite improving total protein intake.
doi.org/10.1002/jimd...
New review on untargeted metabolomics in IMDs:
• Detects thousands of metabolites at once
• Finds new biomarkers (PDE, HPII, GLUT1DS)
• Supports variant interpretation
• Reveals pathophysiology and guides therapy monitoring
doi.org/10.1002/jimd...
2 maternal–fetal PKU pregnancies successfully managed.
Notable finding: Phe tolerance rose >300% despite fetal PAH deficiency, suggesting regulators of Phe tolerance extend beyond fetal enzyme activity.
doi.org/10.1002/jmd2...
New data from the Dutch ALD cohort show that over half of adult male ALD patients experience sexual dysfunction, yet most have normal testosterone.
Neurological impairment from myelopathy was the strongest predictor.
doi.org/10.1002/jimd...
New HOS data provides the largest analysis to date of female patients with MPS II.
Just 1.1% of the registry, these patients show high multisystem burden, frequent surgeries, and 57% cognitive impairment.
Useful insights for earlier diagnosis and timely ERT.
doi.org/10.1002/jmd2...
🎧 New shortcast!
Katie Sapp & Allyson Tyrrell walk us through the challenges of newborn screening for LSDs and why multitier testing is the way forward.
Based on their latest JIMD Reports paper.
open.spotify.com/episode/3cMh...
#ThinkMetabolic #NewbornScreening #LSD #RareDisease #JIMDshortcast
New #JIMD guideline out now:
🧬 Tyrosine Hydroxylase Deficiency (THD)
Led by the iNTD network, it sets out how to:
Diagnose via CSF + genetics
Treat with L-dopa/DCI
Plan multidisciplinary care
📘 Consensus from 28 experts & patient reps.
👉 doi.org/10.1002/jimd...
#THD #RareDisease #MetabolicMedicine
How late is too late to start CDCA in CTX?
We put that question directly to Tanyel Zübarioğlu, lead author of the largest long-term CTX treatment study to date.
The answer may change how you think about prognosis, access, and the real-world impact of CDCA therapy.
soundcloud.com/user-1090061...
🧩 New in JIMD: a simple screening tool helps non-neurologists detect movement disorders in metabolic patients boosting sensitivity from 68% → 87%.
Quick, structured, and now validated.
Read open access 👉 doi.org/10.1002/jimd...
#JIMD #MovementDisorders #RareDisease
🎧 The JIMD Podcast Research Round-Up is back!
Silvia Radenkovic & Rodrigo Starosta welcome Hilary Vernon & Austin Larson for a deep dive into mitochondrial disease — biomarkers, omics, and new therapeutic frontiers.
➡️ Listen now: open.spotify.com/episode/0cUZ...
#MitochondrialDisease #RareDisease
If you heard the line about “switching off genes to treat OTC deficiency” in the latest JIMD Podcast — this is the story behind it.
Knocking down hepatic GLS2 reduced ammonia levels and mortality in a mouse UCD model.
🎧 Podcast: open.spotify.com/episode/6gv3...
#JIMD #ThinkMetabolic
New in JIMD Reports: severe neurological presentation in siblings with COQ5-related primary CoQ10 deficiency — featuring recurrent strokes, optic atrophy, and functional validation in yeast.
🧬 Expanding the molecular and clinical spectrum of this ultra-rare disorder.
👉 doi.org/10.1002/jmd2...
New in #JIMD 🔬
“Removal of Toxic Metabolites, Chelation: Manganese Disorders”
From Na₂CaEDTA to novel Mn-specific ligands, this review explores how chemistry can help tackle hypermanganesemia and manganism.
👉 doi.org/10.1002/jimd...
#Manganese #Chelation #RareDisease #MetabolicMedicine
A baby with CPS1 deficiency, a world-first use of in vivo gene editing, and the emotional, ethical, and scientific questions that follow.
In the latest Podcast, Kiran Musunuru, Rebecca Ahrens-Nicklas, and Julien Baruteau discuss.
open.spotify.com/episode/3m2r...
A 61-year-old with rhabdomyolysis, prolonged QT, and recurrent fatigue… but what ties it all together?
Dr Samuel Mackenzie joins Metabolic Mysteries to unravel a case that proves you’re never too old for a metabolic diagnosis.
🎧 New episode out now | on.soundcloud.com/l8QjmKo5JFvA...
New insights into kidney disease in #MMA & #PA 👇
Zeyer et al. identify TGF-β-driven fibrosis as a key mechanism and show that losartan can normalize ECM remodeling in patient-derived cells.
A promising step toward antifibrotic therapy in organic acidurias.
🔗 doi.org/10.1002/jimd...
#Losartan
A vital but underused part of IMD care
New @ernmetabern.bsky.social survey across 23 countries finds most IMD centres have palliative care but few patients are referred.
Early, integrated, family-centred palliative care should be part of the metabolic pathway.
doi.org/10.1002/jimd...
Trial readiness starts long before a drug enters the clinic.
New JIMD review from Opladen & colleagues (Heidelberg) shows how understanding the natural history of IMDs, through registries, RWD, PROMs & predictive models, underpins every successful rare disease trial.
🔗 doi.org/10.1002/jimd.70102
@emmavardy2.bsky.social this one is for you!
23.10.2025 20:09 — 👍 1 🔁 0 💬 0 📌 0
In this new episode, François Maillot and Ida Schwartz discuss their systematic review of IMDs diagnosed in adults over 65.
The findings reveal decades-long diagnostic delays and remind us to Think Metabolic at any age.
Spotify: open.spotify.com/episode/7qdL...
Or wherever you get your podcasts.
🧬 National data from Japan:
91% hyperammonemia • 50% intellectual disability • LT helps but can’t cure • Early diagnosis is key.
onlinelibrary.wiley.com/doi/10.1002/...
#ThinkMetabolic #JIMD
New in JIMD:
Epifani et al. identify a circulating miRNA signature for PMM2-CDG.
6 key miRNAs → AUC > 0.9 using machine learning; miR-122-5p emerges as a liver-linked marker reflecting neurological & endocrine pathways.
🧬 Toward blood-based biomarkers for CDG.
🔗 doi.org/10.1002/jimd...
New in JIMD Reports:
First expanded-access treatment with govorestat (AT-007) in a child with PMM2-CDG: safe, well-tolerated, and linked to improved liver enzymes, coagulation factors, and developmental scores.
🔗 doi.org/10.1002/jmd2...
#CDG #PMM2 #JIMDReports #RareDisease
🎧 New #ResearchRoundUp!
With Rodrigo away, James Nurse joins Silvia Radenkovic to chat with Dr Judith Jans and Dr Devin Oglesbee about the promise and pitfalls of untargeted metabolomics in IMD diagnostics.
🎙️ Listen here: open.spotify.com/episode/6YbH...
#JIMDPodcast #Metabolomics #ThinkMetabolic
From lifesaving to life-improving: liver transplantation is reshaping how we treat inherited metabolic diseases.
This excellent review explores evolving indications, outcomes > 90%, and the precision-medicine future of metabolic transplant care.
onlinelibrary.wiley.com/doi/10.1002/...
#JIMD #IMD
Allopurinol: not just for gout?
New JIMD paper shows improved cognition & adaptive skills in children with adenylosuccinate lyase deficiency after a year of treatment.
Younger patients benefitted most, linking metabolic correction to developmental gains.
doi.org/10.1002/jimd...
#ThinkMetabolic #ADSL
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
