Journal of Inherited Metabolic Disease

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

💥 ICU admission. Rhabdo. Psych history. Muscle weakness.
Months of confusion… until someone thought metabolically.

🧪 The result? A treatable inborn error of metabolism
🧠 A masterclass in diagnostic persistence.
💊 And a treatment that costs pennies.

Read the full case 👉 doi.org/10.1002/jmd2...

🧪 Can cholic acid be personalised for bile acid synthesis defects?

New open-label study explores long-term CA therapy in AMACR & 3β-HSD deficiency.

👶 Good response in children
🧓 More side effects, less benefit in adults
⚠️ Toxic intermediates persist

Read: doi.org/10.1002/jimd...

🧠 Vomiting + ataxia
🧪 Mildly raised lactate
🧬 Normal organic acids
💊 Thiamine helps—but why?

When the usual tests don’t fit, dig deeper.
Can you crack this metabolic mystery?

🔗 onlinelibrary.wiley.com/doi/10.1002/...
#IMD #RareDisease #MetabolicMystery #JIMDReports #DiagnosticChallenge

Sorry. onlinelibrary.wiley.com/doi/10.1002/...

Thank you for sharing. I shall have to invite them on the podcast.

Classic galactosemia meets cell therapy 🧬
This GALT-null rat model shows how bone marrow transplantation could one day aid enzyme restoration—especially in the brain and gonads.
Still early days, but intriguing signals.

🔗 doi.org/10.1002/jmd2...

#IMD #Galactosemia #RareDisease #MetabolicResearch

Cardiac transplantation may save lives in Barth syndrome—but doesn’t fix exercise tolerance, metabolism or muscle mass. New data underscores need for targeted metabolic therapies.

🔗 doi.org/10.1002/jmd2...

#IMD #BarthSyndrome #MitochondrialMedicine

New IMD Research Round-Up!

Silvia & Rodrigo are joined by Joost Groen & Matt Gentry for a deep dive into glycogen storage disorders – from brain glycogen & AI diagnostics to cancer metabolism & novel therapies.

open.spotify.com/episode/5Vdr...
Or search “IMD Research Round-Up” wherever you listen

🧬👁️ 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

Intramolecular Epistatic Interactions in Genetic Diseases A key factor influencing the structural and functional impact of amino acid substitutions in disease-associated genes involves the background genetic variation. Epistatic interactions between co-evol....

🧬 New in JIMD: What if a variant’s impact depends on another variant in the same gene?

Oliveira-Madureira et al explore intramolecular epistasis in genetic disease.

Fascinating read for anyone working in variant interpretation or rare disease 👇
doi.org/10.1002/jimd...

🎙️ New #JIMDPodcast
We’re talking future therapies in classic galactosemia—from big-picture thinking to... purple sweet potatoes? 🥔💜

Join Estela Rubio-Gozalbo, Kent Lai, Synneva Hagen-Lillevik & Bijina Balakrishnan

👉 open.spotify.com/episode/2YsN...
Or find us wherever you get your podcasts.

🧬 NBS saves lives, but who’s it really for?

Langeveld et al make the case for greater adult IMD specialist involvement in shaping NBS programs. Their review highlights the risks of overdiagnosis, unclear benefit in late-onset cases, and identification of maternal IMDs.

doi.org/10.1002/jimd...

💥 New case report alert!
A woman with GSD IIIA, focal myocardial fibrosis & a missed AGL variant—successfully navigates pregnancy 👶❤️

✅ Healthy baby
✅ Key diagnostic lessons (manual WGS!)
✅ Practical antenatal & postpartum insights

📖 onlinelibrary.wiley.com/doi/10.1002/...

🧩 GI bleeding. Cholestasis. Gallbladder polyps. Developmental delay.

In the latest Metabolic Mysteries podcast from JIMD, Dr JP Stevens walks us through a challenging case that kept the team guessing.

Can you spot the metabolic diagnosis?

🎧 soundcloud.com/user-1090061...

#MetabolicMysteries

Long‐Read Sequencing Expands the Genotypic Spectrum of Patients With Mucopolysaccharidosis Type II The substantial genetic heterogeneity associated with mucopolysaccharidosis type II (MPS II) poses major challenges to current genetic testing. A comprehensive analysis of MPS II (CAMPS II), integrat...

Correct link: doi.org/10.1002/jimd...

New in JIMD: Long-read sequencing reveals hidden variants in patients with inherited metabolic disease, expanding the genotypic spectrum and improving diagnosis.

📖 Read: doi.org/10.1002/jimd...

#Genomics #RareDisease #IMD #LongReadSequencing

Congratulations!!! This is the only podcast I never miss. I’ve learned so much about IMDs. Thank you Dr. James Nurse for being such an incredible host!

Thank you for your kind words. Easy to host great guests.

🎉 5 years of the JIMD Podcast! 🎉

Since June 2020:
🎙️ 133 interviews
📚 51+ hours of IMD content
🌍 Listeners in 100+ countries

Plus spin-offs:
Shortcast
Metabolic Mysteries
Footprints of IMD
Research Round-Up

Thanks to every guest & listener. Here’s to 5 more years!
🔗 soundcloud.com/user-109006120

Fascinating new case report of a child with HMG-CoA Synthase-2 deficiency presenting with an initial biochemical profile suggestive of Maple Syrup Urine Disease.

Just because it looks like a duck and quacks like a duck, doesn't always make it a duck!

onlinelibrary.wiley.com/doi/10.1002/...

🧬 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

🎧 New podcast 🎙️

Lottie Morison discusses recent insights around speech and language progression and assessment in CLN2 and CLN3 disease.

Soundcloud: soundcloud.com/user-1090061...

Spotify: open.spotify.com/episode/6sIU...
Or search for JIMD Podcasts

New in JIMD Reports 📄
Can blood cells help diagnose and monitor FSASD?

This NIH-led study shows free sialic acid is 22–49x higher in leukocytes from patients with FSASD vs controls and other LSDs. A potential minimally invasive biomarker for diagnosis and trials.

doi.org/10.1002/jmd2...
#FSASD

New paper in JIMD Reports:
Multitier testing and collaboration are key to success in newborn screening for LSDs
🧬 Survey of providers reveals persistent challenges around result interpretation — and how clinics are adapting.
🧪 Great resource for centres expanding NBS panels.
doi.org/10.1002/jmd2...

🧠 Brain Metabolism Dialogues continues!

Join Dr Luis Felipe Barros Olmedo for Talk 3: Brain Energy Metabolism

🗓️ 30 June 2025 | 17:00 CEST

🔗 Register: us06web.zoom.us/webinar/regi...

A collaboration between @MetabERN and @SSIEM.

#neurometabolism #brainenergy #IMDs