New JIMD Shortcast
Cell trafficking disorders can mimic mitochondrial, lysosomal, or CDG because the defect lies within the cell.
Merve Yoldaş Çelik discusses a 14-patient case series and why a mechanism-based diagnostic approach matters.
Listen:
open.spotify.com/episode/448f...
#ThinkMetabolic
🎧 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
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
🧬 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: 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/...
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
🌏✨ 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
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
If you think IMDs are child’s play, think again. Adult IMD services are growing rapidly and 40% of their patients were diagnosed as adults.
You won’t find rare until you think rare. #thinkmetabolic #raredisease
open.spotify.com/episode/7v93...
A fit and well man in his 50s has a profound physical deterioration over half a year. The surprising answer is a treatable metabolic diagnosis. Check it out 👇
onlinelibrary.wiley.com/doi/full/10.1002/jmd2.12...
#thinkmetabolic #metabolicmystery
