iiinova — where your digital self keeps evolving

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

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

010

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

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

000

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...

110

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...

010

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...

021

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...

033

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...

001

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

000

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...

021

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...

020

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...

020

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...

010

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...

001

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...

010

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

010

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

021

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...

000

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

120

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

030

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

000

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...

000

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...

000

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...

000

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...

110

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

010

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

000

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...

010

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...

000

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...

000

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

111

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

000

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

000

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

010

Journal of Inherited Metabolic Disease @jimd-editors.bsky.social · 11/08/2026

Sterol and bile acid synthesis disorders: why are patients still missed, and how can biomarkers, newborn screening and new treatments change that? Silvia and Rodrigo are joined by Andrea DeBarber and Robert Steiner for the latest Research Round-Up. 🎧 podcasts.apple.com/gb/podcast/j...

010

Journal of Inherited Metabolic Disease @jimd-editors.bsky.social · 11/08/2026

MCADD ≠ always hypoketotic hypoglycaemia. This JIMD Reports case describes neonatal ketoacidosis as the presenting feature of MCAD deficiency, an important reminder that inherited metabolic disorders don’t always follow the textbook. doi.org/10.1002/jmd2... #MCADD #Neonatology #RareDisease #MedEd

031

Journal of Inherited Metabolic Disease @jimd-editors.bsky.social · 10/08/2026

Koga et al report that Baat-deficient mice reproduce the elevated serum 7-HOCA seen in a patient with BAAT deficiency, suggesting the disorder involves broader disruption of bile acid homeostasis than impaired conjugation alone. doi.org/10.1002/jimd...

000

Journal of Inherited Metabolic Disease @jimd-editors.bsky.social · 07/08/2026

How reliable is the classic PKU mouse model? Cao et al. review behavioural phenotyping of the Pah(enu2) mouse—highlighting reproducible findings, inconsistent results and priorities for future preclinical PKU research. doi.org/10.1002/jimd... #PKU #JIMD #RareDisease

000

Journal of Inherited Metabolic Disease @jimd-editors.bsky.social · 04/08/2026

New JIMD Podcast: can metabolic nutrition move beyond biochemical control towards lifelong health? Júlio César Rocha, Anne Daly & Anita MacDonald discuss protein substitutes, new therapies, point-of-care testing and AI. open.spotify.com/episode/5gAB... or wherever you like to listen

131

Journal of Inherited Metabolic Disease @jimd-editors.bsky.social · 04/08/2026

Adult neurometabolic medicine is growing rapidly. In this Swedish cohort of 59 adults: 🧬 32 different disorders 💊 65% received disease-specific treatment 🏥 84% remained under specialist follow-up 🏡 27% were fully independent doi.org/10.1002/jmd2...

000

Journal of Inherited Metabolic Disease @jimd-editors.bsky.social · 31/07/2026

Metabolic Mysteries Neonatal seizures then, years later, seizures, behavioural change, tremor, myoclonus and unusual eye movements. The diagnosis seems to be pointing in one direction. But is it? Mrinmayee Takle & Kuntal Sen help us unravel the case. podcasts.apple.com/gb/podcast/j...

000

Journal of Inherited Metabolic Disease @jimd-editors.bsky.social · 31/07/2026

New in #JIMDReports: 5-year follow-up of two siblings with Morquio A syndrome who started ERT at very different ages. Earlier treatment may benefit severe cervical manifestations, but skeletal disease remains a challenge. Choi et al. doi.org/10.1002/jmd2... #MorquioA #MPS

010

Journal of Inherited Metabolic Disease @jimd-editors.bsky.social · 28/07/2026

Neonatal acute liver failure due to citrin deficiency (NALFCD) is the focus of this new #JIMDReports case from Hoi-Yin Chan et al doi.org/10.1002/jmd2... #NewbornScreening #CitrinDeficiency #MetabolicMedicine #RareDisease

021

Journal of Inherited Metabolic Disease @jimd-editors.bsky.social · 27/07/2026

Can classical #Homocystinuria affect the aorta? This case describes the first reported thoracic aortic dissection in a patient with classical homocystinuria and asks whether selected patients may benefit from aortic surveillance. doi.org/10.1002/jmd2... #RareDisease #Cardiology #MetabolicMedicine

000

Journal of Inherited Metabolic Disease @jimd-editors.bsky.social · 24/07/2026

How does hepatic GSD IX evolve with age? In 89 UK patients, disease burden often eased over time but IXγ2 followed a more severe course with greater lifelong treatment needs. The study also reports 49 novel alleles. Halligan, Sanders, Selvanathan et al. doi.org/10.1002/jimd...

000

Journal of Inherited Metabolic Disease @jimd-editors.bsky.social · 21/07/2026

Are we still missing inherited metabolic disease or starting to diagnose people who may never become unwell? Nina Gold, Jessica Gold and Mirjam Langeveld join the #JIMDPodcast to debate late diagnosis, genomic newborn screening and the burden of uncertain risk. open.spotify.com/episode/7cMB...

000

Journal of Inherited Metabolic Disease @jimd-editors.bsky.social · 14/07/2026

PKU may be one of the oldest recognised inherited metabolic disorders, but research continues to move rapidly. Silvia and Rodrigo are joined by Dr Cary Harding and Dr Wendy Smith to discuss new therapies, updated guidelines and the future of PKU care. on.soundcloud.com/4lNAxogkrYJc... #PKU

010

Journal of Inherited Metabolic Disease @jimd-editors.bsky.social · 13/07/2026

Nine new cases of NAXD deficiency expand the recognised phenotype, including neurological, cardiac and prenatal presentations. Four individuals treated with niacin survived subsequent illnesses. doi.org/10.1002/jimd... #RareDisease #MitochondrialDisease #NAXD

010

Journal of Inherited Metabolic Disease @jimd-editors.bsky.social · 11/07/2026

Can mitochondrial dysfunction drive targetable immune activation? A new #JIMDReports case describes the first reported use of JAK inhibition in PNPT1-related COXPD13, with normalization of the type I interferon signature and associated clinical and biochemical improvements. doi.org/10.1002/jmd2...

000

Journal of Inherited Metabolic Disease @jimd-editors.bsky.social · 08/07/2026

Can the same treatment help one patient but harm another? In our latest #JIMDPodcast, Dr Andrés Klein discusses rapamycin, modifier genes and why pharmacogenomics may shape the future of precision medicine in Niemann-Pick C... and perhaps many other rare diseases. 🎧 soundcloud.com/user-1090061...

010