Reducing the diagnostic odyssey in IMDs 🧠
Expert-designed fact sheets + AI/NLP validation using real hospital data show real promise for earlier diagnosis and referral.
Open access in J Inherit Metab Dis 👉 doi.org/10.1002/jimd...
#RareDisease #IMD #AIinMedicine #JIMD
VUS ≠ surveillance.
In The Grey Zone Project, Lund et al. propose LPC-based risk stratification for ABCD1 variants detected via newborn screening.
Biochemistry — not variant label — determines monitoring intensity.
Read: doi.org/10.1002/jimd...
#ALD #NewbornScreening #RareDisease #JIMD
New in JIMD: shifting IEM nutrition from control → optimisation.
Personalised natural protein + adequate energy, targeted AA supplementation, and a lifespan framework, supported by tech/microbiome/pharmacologic tools.
DOI: doi.org/10.1002/jimd...
#IMD #IEM #MetabolicNutrition #JIMD
New: the largest D-bifunctional protein deficiency cohort in nearly 20 years
Neonatal encephalopathy remains typical, but adult survival is possible even in neonatal-onset cases
And importantly: normal/mild VLCFAs don't rule out DBP-D.
doi.org/10.1002/jimd...
#DBPD #Peroxisomal #RareDisease #JIMD
Identification of Cepharanthine as a Potential Therapy of Acid Sphingomyelinase Deficiency by Reducing Cellular Sphingosylphosphorylcholine #JIMD #MassSpec onlinelibrary.wiley.com/doi/10.1002/...
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
🧩 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
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 🔬
“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
🧬 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
🎧 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
03-09-2025 Daily Sitara Sindh Jacobabad
#Reastoresepcoccell #BanedBadGovernance #
#Mcfailusproject #Jcobabadpolicepoliticize
#opengadailibrary #holdingcampcorruption #jacobabadpolicefail #Jacobabad #Corruption
#flood #BadGovernance #jimd #PPP #Sindh #news
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 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 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
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
How long does it take to diagnose MLD?
New data show the median delay is over 2 years. Most kids already show significant neuro decline before diagnosis.
doi.org/10.1002/jimd.70049
#MLD #RareDisease #JIMD #MetabolicMedicine
New in JIMD 🧬
Liver gene therapy in GSD-Ia mice helps normalize renal metabolism, but fibrosis persists.
doi.org/10.1002/jimd.70048
#GSDIa #GeneTherapy #RareDisease #Nephropathy #JIMD
