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Journal of Inherited Metabolic Disease @jimd-editors.bsky.social · 09/10/2026

DCA improved survival, neuromuscular activity and mitochondrial physiology in C. elegans models of PDCD—but benefits depended on the affected gene and disease severity. New preclinical findings in JIMD: doi.org/10.1002/jimd... #MitochondrialDisease #PDCD

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Journal of Inherited Metabolic Disease @jimd-editors.bsky.social · 06/10/2026

New JIMD Podcast Research Round-Up 🍎 David Cassiman & Martijn Brouwers join Silvia and Rodrigo to discuss hereditary fructose intolerance, KHK inhibition, endogenous fructose production, MASLD and SORD deficiency. Rare disease informing common disease. 🎧 open.spotify.com/episode/3CUQ...

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Journal of Inherited Metabolic Disease @jimd-editors.bsky.social · 05/10/2026

CDG discovery is outpacing treatment. Lipiński & Jaeken review new disorders, advances in diagnosis and emerging therapies. Normal transferrin does not exclude CDG and most CDG still lack disease-modifying treatment. doi.org/10.1002/jimd... #CDG #JIMD

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Journal of Inherited Metabolic Disease @jimd-editors.bsky.social · 05/10/2026

What if it isn’t one diagnosis or the other — but both? This exceptional case reports coexisting argininosuccinic aciduria + citrin deficiency. Two defects. One altered biochemical picture. 📄 doi.org/10.1002/jmd2... #JIMDReports #CitrinDeficiency #UCD

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Journal of Inherited Metabolic Disease @jimd-editors.bsky.social · 04/10/2026

📢 New in #JIMD The first international consensus guidelines for pyruvate dehydrogenase complex deficiency (PDCD) bring together 199 recommendations covering diagnosis, treatment, ketogenic diet, emergency care, surveillance & transition. 📄 doi.org/10.1002/jimd... #PDCD #MitoDisease #RareDisease

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Journal of Inherited Metabolic Disease @jimd-editors.bsky.social · 04/10/2026

New Shortcast What does inherited neurometabolic disease look like in adulthood? Boel Ernerdahl discusses 59 adults with 32 different disorders — revealing remarkably diverse treatment, functional & social needs. 🎧 Listen here⁠: open.spotify.com/episode/6Lfq... #JIMDPodcast #RareDisease

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Journal of Inherited Metabolic Disease @jimd-editors.bsky.social · 03/10/2026

New in JIMD Reports: in a child with Tarui disease, pre-exercise ketones improved exercise tolerance. Modified Atkins reduced symptoms but brought weight loss and poorer emotional wellbeing. A single case; further research needed. doi.org/10.1002/jmd2... #GSDVII

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Journal of Inherited Metabolic Disease @jimd-editors.bsky.social · 03/10/2026

New in JIMD: international LC-FAOD guidance, from diagnosis to lifelong care. Individualised nutrition, illness plans, supported exercise and monitoring, drawing on evidence and expert consensus. doi.org/10.1002/jimd... #JIMD #LCFAOD

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Journal of Inherited Metabolic Disease @jimd-editors.bsky.social · 23/09/2026

Ironically the ability to access functional testing is getting harder whilst the expansion of genomic testing is making the need greater. Planners seemed to assume that genomic testing would solve everything and save money, failing to appreciate that it would generate more questions.

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Journal of Inherited Metabolic Disease @jimd-editors.bsky.social · 23/09/2026

🧬 A plausible variant isn’t necessarily causal. Could an ABHD14A variant explain suspected ACY1 deficiency? Functional studies suggest not — a neat example of why variant interpretation sometimes needs to go beyond sequencing. doi.org/10.1002/jmd2...

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Journal of Inherited Metabolic Disease @jimd-editors.bsky.social · 22/09/2026

Remethylation disorders are clinical chameleons but often easy to detect if someone thinks to measure total homocysteine. Martina Huemer joins the JIMD Podcast to discuss revised guidelines, high-dose hydroxocobalamin and why shared treatment protocols matter. 🎧 open.spotify.com/episode/42AR...

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Journal of Inherited Metabolic Disease @jimd-editors.bsky.social · 22/09/2026

What happens to the developing brain in asparagine synthetase deficiency? The first neuropathological characterisation of ASNSD reveals disrupted neuronal migration, abnormal cortical lamination and cortical thinning. 🧠 New in #JIMDReports doi.org/10.1002/jmd2...

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Journal of Inherited Metabolic Disease @jimd-editors.bsky.social · 20/09/2026

Pancreatitis may be an under-recognised complication of mitochondrial disease. A systematic review found 24 reported cases: • Median age at onset: 10 years • 63% recurrent/chronic • mtDNA deletions & m.3243A>G most frequent 🔗 doi.org/10.1002/jmd2...

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Journal of Inherited Metabolic Disease @jimd-editors.bsky.social · 18/09/2026

Creatine does more than replace what's missing in GAMT deficiency 🧬 In GAMT-deficient mice, supplementation ↓ GAA by downregulating AGAT – revealing the mechanism behind a long-recognised treatment effect. But GAA remained elevated in tissues. doi.org/10.1002/jimd...

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Journal of Inherited Metabolic Disease @jimd-editors.bsky.social · 17/09/2026

The phenotype fits. The biomarkers fit. But NPC1 & NPC2 testing is negative. In our latest Metabolic Mystery, Dr Ayca Burcu Kahraman follows the clues beyond conventional DNA testing. Can you solve it? 🎧 podcasts.apple.com/gb/podcast/m... #MetabolicMysteries #RareDisease #RNAseq

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Journal of Inherited Metabolic Disease @jimd-editors.bsky.social · 17/09/2026

Sarcopenia was identified in 40% of 45 children with severe MSUD, organic acidurias or UCDs being assessed for liver transplantation. It was linked to poorer growth, enteral feeding and lower essential amino acids; leucine was an independent predictor. doi.org/10.1002/jimd...

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Journal of Inherited Metabolic Disease @jimd-editors.bsky.social · 17/09/2026

Where does the value of a treatment really lie? In ultra-rare disease, preserving independence or slowing progression can be profoundly meaningful even when conventional measures miss it. A new Patient Perspective calls for lived experience and real-world evidence to count doi.org/10.1002/jimd...

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Journal of Inherited Metabolic Disease @jimd-editors.bsky.social · 16/09/2026

ATP synthase defects share impaired ureagenesis but their biochemical signatures differ. 🔴 Hyperammonaemia characterises TMEM70 crises 🔵 Persistent hypocitrullinaemia characterises MT-ATP6 deficiency Siri et al. in JIMD: doi.org/10.1002/jimd...

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Journal of Inherited Metabolic Disease @jimd-editors.bsky.social · 14/09/2026

🕵️ A 7-year-old boy with seizure, progressive ataxia & tremor. MRI: subacute combined degeneration of the cord. Vitamin B12: normal. What’s the diagnosis? Dr Steven Lang takes on our latest #MetabolicMystery. 🎧 soundcloud.com/user-1090061...

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Journal of Inherited Metabolic Disease @jimd-editors.bsky.social · 13/09/2026

When do cognitive trajectories diverge in MPS II? Follow-up of 23 males over as long as 14 years found early stagnation and decline in neuronopathic MPS II, with the earliest, most severe impairment in those with IDS deletions. Timing matters for brain-targeted treatment. doi.org/10.1002/jimd...

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Journal of Inherited Metabolic Disease @jimd-editors.bsky.social · 12/09/2026

🧬 BCKDK deficiency turns BCAA metabolism on its head. Loss of the kinase leaves BCKDH permanently active → BCAA depletion, not accumulation. A new #JIMD review looks at treatment, the importance of early diagnosis & why newborn screening may deserve consideration. doi.org/10.1002/jimd...

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Journal of Inherited Metabolic Disease @jimd-editors.bsky.social · 12/09/2026

🧬 Early results for GLM101 in #PMM2CDG: 3 adults treated for 24 weeks showed a mean 17.7-point improvement in ICARS, with improvement across all ataxia domains and no serious adverse events. Small, open-label study — but an encouraging signal. doi.org/10.1002/jimd... #JIMD #CDG

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Journal of Inherited Metabolic Disease @jimd-editors.bsky.social · 12/09/2026

🧬 Could genome editing transform treatment for glycogen storage diseases? A new #JIMD review from Troy von Beck, Raymond Wang & Dwight Koeberl looks at progress from preclinical editing towards clinical translation and the challenges still ahead. doi.org/10.1002/jimd... #GSD #CRISPR #RareDisease

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Journal of Inherited Metabolic Disease @jimd-editors.bsky.social · 08/09/2026

🎙️ New JIMD Podcast Are infections and cytopenias in organic acidemias simply consequences of metabolic crises or part of the underlying disease? Abdul L. Shakerdi and Jerry Vockley explore the emerging link between metabolism, inflammation and immunity. open.spotify.com/episode/5pL1...

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Journal of Inherited Metabolic Disease @jimd-editors.bsky.social · 08/09/2026

Actually it wouldn’t be slightly larger but quite a bit larger than is seen but obviously not impossible. In a world of 7 billion people being 1 in a billion happens 7 times!

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Journal of Inherited Metabolic Disease @jimd-editors.bsky.social · 08/09/2026

PMS will occur when the terminal deletion includes the SHANK3 gene. Typically the deletions, which vary in size, do not include ADSL but it would only take a slightly bigger deletion to include the gene.

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Journal of Inherited Metabolic Disease @jimd-editors.bsky.social · 07/09/2026

I wasn’t aware of this association and hadn’t included it in the graphic I had made (prior to you responding). Are you aware if these cases are published? As for how many is too many, I refer you to Hickam’s Dictum

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Journal of Inherited Metabolic Disease @jimd-editors.bsky.social · 07/09/2026

The Chemist was an interesting idea but got very silly. Holliday read at best.

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Journal of Inherited Metabolic Disease @jimd-editors.bsky.social · 07/09/2026

Haven’t seen ADSL with PMS but there are others.

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Journal of Inherited Metabolic Disease @jimd-editors.bsky.social · 07/09/2026

One rare diagnosis doesn’t necessarily explain everything. A new #JIMDReports case describes MPS I diagnosed in a patient with Wolf–Hirschhorn syndrome, a striking example of diagnostic overshadowing in rare disease. doi.org/10.1002/jmd2... #MPSI #RareDisease

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Journal of Inherited Metabolic Disease @jimd-editors.bsky.social · 05/09/2026

🇧🇷 New in #JIMDReports A Brazilian cohort provides new insights into the clinical & molecular spectrum of Glut1 deficiency syndrome—a potentially treatable neurometabolic disorder where recognition matters. 🔗 doi.org/10.1002/jmd2... #Glut1DS #RareDisease

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Journal of Inherited Metabolic Disease @jimd-editors.bsky.social · 04/09/2026

Turn CLPP up or down? Activation has reached cancer treatment; reduced activity shows promise in experimental mitochondrial disease models. Lea Isermann & Aleksandra Trifunovic explore this therapeutic duality in JIMD. doi.org/10.1002/jimd... #MitochondrialDisease

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Journal of Inherited Metabolic Disease @jimd-editors.bsky.social · 04/09/2026

Less cornstarch, maintained glucose control: the phase 3 DTX401 gene therapy trial in #GSDIa found a 41% reduction in daily cornstarch intake at 48 weeks versus 10% with placebo. A step towards reducing treatment burden. doi.org/10.1002/jimd...

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Journal of Inherited Metabolic Disease @jimd-editors.bsky.social · 04/09/2026

Can lactate after a 12-min walk help diagnose mitochondrial myopathy? Patients walked shorter distances, but exercise and recovery lactate responses did not distinguish them from healthy controls. A poor diagnostic biomarker but potentially a useful outcome measure. doi.org/10.1002/jmd2...

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Journal of Inherited Metabolic Disease @jimd-editors.bsky.social · 03/09/2026

In this JIMD Shortcast, Dr Eamon McCarron presents a challenging pregnancy in a woman with lysinuric protein intolerance complicated by immune dysregulation and severe thrombocytopenia. Hear how MDT care supported a favourable outcome for both mother and baby. open.spotify.com/episode/4SHC...

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Journal of Inherited Metabolic Disease @jimd-editors.bsky.social · 02/09/2026

15 years of “IBS” before a diagnosis of ACSF3-related CMAMMA. The case also has an interesting dietary twist: conventional MMA-style high-carbohydrate/protein-restricted advice worsened the GI symptoms. New in #JIMDReports: doi.org/10.1002/jmd2...

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Journal of Inherited Metabolic Disease @jimd-editors.bsky.social · 31/08/2026

New JIMD Reports Shortcast 🎧 Dan Ross Brooks & Fernando Scaglia discuss PNPT1-related mitochondrial disease, type I interferon activation and the potential of JAK inhibition with tofacitinib. Listen: soundcloud.com/user-1090061... #mitomedicine #interferonopathy

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Journal of Inherited Metabolic Disease @jimd-editors.bsky.social · 28/08/2026

Final, and thankfully final, dispatch from Helsinki! James & Silvia look back at Thursday, preview Friday and speak to Ina Knerr about Dublin 2027. With Tumelo Satekge, Tim Fazio, Miriam Güra, Caroline Glatthard & Elif İşler Soylu. 🎧 on.soundcloud.com/pZ2JpVMKAryP... #SSIEM2026

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Journal of Inherited Metabolic Disease @jimd-editors.bsky.social · 27/08/2026

Lysosomal disorders are more than diseases of substrate storage. McCarron et al. identify 108 disorders across 11 pathomechanistic categories offering a biologically informed framework for diagnosis, genomic interpretation and mechanism-based therapy. doi.org/10.1002/jimd...

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Journal of Inherited Metabolic Disease @jimd-editors.bsky.social · 27/08/2026

Ep 4 from #SSIEM2026 🇫🇮 Guests! Posters! FAOD! NPC! Physics! And Dr Nazi Tabatadze gives James a geography lesson while discussing IMD care in Georgia 🇬🇪 Plus: apparently we carry enough fat energy for 40 marathons. No excuses at Run Club. 🏃 🎧 on.soundcloud.com/x802Ph8JOaXP...

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Journal of Inherited Metabolic Disease @jimd-editors.bsky.social · 26/08/2026

Infusion reactions and antidrug antibodies can complicate enzyme replacement therapy in #FabryDisease. New in #JIMD: Janssens et al. examine their occurrence and whether preventive measures can reduce the risk. 🔗 doi.org/10.1002/jimd...

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Journal of Inherited Metabolic Disease @jimd-editors.bsky.social · 25/08/2026

You should record a bit highlighting your favourite posters.

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Journal of Inherited Metabolic Disease @jimd-editors.bsky.social · 25/08/2026

Although if you listen to the research round up on PKU the Americans advocate very aggressive management.

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Journal of Inherited Metabolic Disease @jimd-editors.bsky.social · 25/08/2026

It’s a calmer environment in the editors meeting!!

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Reposted by Journal of Inherited Metabolic Disease

Nathan Cantley @nathanwpcantley.bsky.social · 24/08/2026

Listening to the excellent @jimd-editors.bsky.social podcast previewing the SSIEM 2026 symposium in Helsinki that I am excitedly on my way to. #ssiem2026 open.spotify.com/episode/5aZA.... It is soothing my nerves as the British railway network slows my journey to Heathrow 🤣

open.spotify.com

Helsinki: Day 0 - Saunas, sequencing and special sessions

JIMD Podcasts · Episode

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Journal of Inherited Metabolic Disease @jimd-editors.bsky.social · 24/08/2026

Not sure our dulcet tones will sooth anything but it was a fun one to record. I suspect they’ll only get more chaotic.

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Journal of Inherited Metabolic Disease @jimd-editors.bsky.social · 18/08/2026

🎙️ What does Phe exposure actually do to the adult brain in #PKU? Raphaela Muri & Roman Trepp join the JIMD Podcast to discuss MRI changes, reversibility, cognition — and whether their latest findings really suggest altered brain ageing. on.soundcloud.com/4t8UjUZKGEyo... #JIMD #Phenylketonuria

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Journal of Inherited Metabolic Disease @jimd-editors.bsky.social · 17/08/2026

🇫🇮 The #SSIEM2026 Abstract Book is HERE. With Helsinki just over a week away, start exploring the science before the meeting begins: oral communications, posters, e-posters & more across 27 areas of metabolic medicine. 📖 onlinelibrary.wiley.com/doi/epdf/10.... 25–28 August | Helsinki #JIMD #SSIEM

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Journal of Inherited Metabolic Disease @jimd-editors.bsky.social · 15/08/2026

Pregnancy is a metabolic challenge. This report shares real-world experience of managing pregnancy in women with fructose 1,6-bisphosphatase deficiency where avoiding fasting and metabolic decompensation takes on a whole new importance. doi.org/10.1002/jmd2... #RareDisease #Pregnancy #IMD

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