Lightnews — Scholar-powered news

Journal of Inherited Metabolic Disease @jimd-editors.bsky.social · 1d

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

2

Journal of Inherited Metabolic Disease @jimd-editors.bsky.social · 2d

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...

1

Journal of Inherited Metabolic Disease @jimd-editors.bsky.social · 3d

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/...

2

Journal of Inherited Metabolic Disease @jimd-editors.bsky.social · 6d

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

Journal of Inherited Metabolic Disease @jimd-editors.bsky.social · 6d

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

1

Journal of Inherited Metabolic Disease @jimd-editors.bsky.social · 8d

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

1 1

Journal of Inherited Metabolic Disease @jimd-editors.bsky.social · 8d

🎧 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

Journal of Inherited Metabolic Disease @jimd-editors.bsky.social · 15d

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

Journal of Inherited Metabolic Disease @jimd-editors.bsky.social · 16d

🔹 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

1

Journal of Inherited Metabolic Disease @jimd-editors.bsky.social · 20d

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...

Journal of Inherited Metabolic Disease @jimd-editors.bsky.social · 23d

🎧 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

Journal of Inherited Metabolic Disease @jimd-editors.bsky.social · 24d

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...

Journal of Inherited Metabolic Disease @jimd-editors.bsky.social · 27d

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

Journal of Inherited Metabolic Disease @jimd-editors.bsky.social · 28d

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

Journal of Inherited Metabolic Disease @jimd-editors.bsky.social · Sep 9

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...

Journal of Inherited Metabolic Disease @jimd-editors.bsky.social · Sep 8

🧠 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...

Journal of Inherited Metabolic Disease @jimd-editors.bsky.social · Sep 3

🌏✨ 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

1

Journal of Inherited Metabolic Disease @jimd-editors.bsky.social · Sep 2

🎧 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

1 1

Journal of Inherited Metabolic Disease @jimd-editors.bsky.social · Aug 26

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

Journal of Inherited Metabolic Disease @jimd-editors.bsky.social · Aug 19

🧬 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/...

1

Journal of Inherited Metabolic Disease @jimd-editors.bsky.social · Aug 19

🎙️ 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

2

Journal of Inherited Metabolic Disease @jimd-editors.bsky.social · Aug 18

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...

1

Journal of Inherited Metabolic Disease @jimd-editors.bsky.social · Aug 18

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...

Journal of Inherited Metabolic Disease @jimd-editors.bsky.social · Aug 14

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...

1 1

Journal of Inherited Metabolic Disease @jimd-editors.bsky.social · Aug 13

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...

1