jimd-editors.bsky.social - Profile | ThreadSky | a Reddit-style client for Bluesky

The dilated cardiomyopathy with ataxia (DCMA) syndrome is a rare mitochondrial disorder caused by mutations in the DNAJC19 gene. King et al describe a flux assay to assess the metabolic function of mitochondria in DCMA patients. Read more here: onlinelibrary.wiley.com/doi/full/10....

submitted 16 minutes ago • 0 comments

Why study organoids when you could work with the organs themselves? Normothermic Machine Perfusion of Explanted Human Metabolic Livers: A Proof of Concept for Studying Inborn Errors of Metabolism doi.org/10.1002/jimd...

submitted 1 day ago • 0 comments

Spermidine is a darling of the longevity industry but the needs of our IMD patients are somewhat more immediate, Santos-gomez et al here report success with GRIN2B loss of function variants. Read on: onlinelibrary.wiley.com/doi/full/10....

submitted 1 day ago • 0 comments

Just 18% of Inherited Metabolic Disorders have a treatment, but which ones are they and how can you find out more? Clara van Karnebeek and Eva Hoytema explain their work developing the Treatabolome for IMD. soundcloud.com/user-1090061... #inheritedmetabolicdisorder

submitted 3 days ago • 0 comments

Several of the lysosomal storage disorders have treatment options of varying efficacy whilst for others treatment is purely symptom based. In this new work, Ellie Corazolla et al explore patient beliefs about their treatments. onlinelibrary.wiley.com/doi/full/10....

submitted 4 days ago • 0 comments

We see lots of news about new treatment and efforts to expand screening but this may miss some of the more simple interventions available in rare disease which are often unavailable despite coming at a fraction of the cost of genome sequencing or novel therapies. doi.org/10.1002/jmd2...

submitted 6 days ago • 3 comments

Fancy a chat? Get ready for this terrific set of “Dialogues on Neurometabolim”, chaired by the fabulous A. Garcia-Cazorla and supported by MetabERN. 1st webinar: 10th March 2025 at 17.00 CET. Register here: us06web.zoom.us/webinar/regi... or using the QR code on the image below.

submitted 8 days ago • 0 comments

Cell trafficking disorders represent the largest group of complex molecule diseases. However, they are still poorly recognized as a unified diagnostic entity and are often viewed as unrelated individual diseases by non-metabolic specialists. 👉 doi.org/10.1002/jimd...

submitted 9 days ago • 0 comments

Our first Shortcast of 2025 features Dr Thomas Cassini explaining how the Undiagnosed Diseases Network (UDN) group unravelled the underlying genetics in a child with a biochemical phenotype of TFP Deficiency but only a single genetic change. Listen on Spotify: open.spotify.com/episode/6TOI...

submitted 11 days ago • 1 comment

Great new "Educational Image" shared today that illustrates a Metabolic Mystery giving way to an unexpected finding. A man with Alports experiences black-blue skin discolouration as his renal function worsens... Check out the images online: doi.org/10.1002/jimd... (alt image for illustration)

submitted 11 days ago • 0 comments

Have you ever stopped to consider the interface of the urea cycle and immune function? It's an important consideration when illness can lead to catastrophic decompensation and life-threatening crisis. doi.org/10.1002/jimd...

submitted 15 days ago • 1 comment

A Metabolic Mystery: Ex-33 weeker with nonimmune hydrops fetalis. After birth had thrombocytopenia, coagulopathy, pulmonary ⬆️BP, ⬆️ transaminases, and ⬆️ferritinemia - resolved by d43 GDD with speech delay and ASD. Focal seizures from 12 m. Normal MRI. doi.org/10.1002/jimd...

submitted 15 days ago • 0 comments

The Leloir pathway was described over 7 decades ago, there are significant shortcomings in the current approach to Galactosemia management. This new article explores possible future therapies: 👉 doi.org/10.1002/jimd... #galactosemia

submitted 15 days ago • 0 comments

Metabolic emergencies strike fear into the hearts of clinicians, patients and their families. Prompt, effective management may be the difference between life, long-term morbidity, or even death. Think metabolic, save a life! Read on: doi.org/10.1002/jimd...

submitted 15 days ago • 0 comments

Dr Andrew Morris joins the podcast to talk treatment and management in Classic homocystinuria Listen on Spotify: podcasts.apple.com/gb/podcast/j... Apple: podcasts.apple.com/gb/podcast/j... Or wherever you get your podcasts. #Homocystinuria #cbsdeficiency #podcast

submitted 15 days ago • 0 comments

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 👇 https://onlinelibrary.wiley.com/doi/full/10.1002/jmd2.12469 #thinkmetabolic #metabolicmystery

submitted 19 days ago • 0 comments

New publication in JIMD Reports with a review of Alpha Mannosidosis presentations in the UAE. Retrospective Study of Clinical and Genetic Profiles of Alpha-Mannosidosis Patients From the UAE Ali Saad et al https://doi.org/10.1002/jmd2.70001

submitted 23 days ago • 0 comments

I love it when authors come back to me after working on a #VisualAbstract and Short-chain enoyl-CoA hydratase 1 (ECHS1) deficiency doesn't get much of a mention in the journal. Great to share news about possible treatment impact in a fly model of this condition. doi.org/10.1002/jimd...

submitted 25 days ago • 0 comments

New in the main journal: Contribution of Brain Intrinsic Branched-Chain Amino Acid Metabolism in a Novel Mouse Model of Maple Syrup Urine Disease Amanda Kuhs, et al @AhrensNicklas doi.org/10.1002/jimd...

submitted 25 days ago • 0 comments

Dietary management is the mainstay of therapy for a significant number of IMD which can lead to disruption of breast feeding but, aside from classic galactosemia, it is at least feasible read on: doi.org/10.1002/jimd... #visualabstract #breastfeeding

submitted 25 days ago • 1 comment

New publication looks at patients under adult IMD services. Adult teams are looking after 34% more patients than 10y ago and >40% of these patients were diagnosed as adults doi.org/10.1002/jimd...

submitted 25 days ago • 1 comment

'E numbers' often get bad press in this new publication Bellagamba et al explore how E163 (the colouring of a purple sweet potato) and myo-inositol could help treat galactosemia. Why might a root vegetable help in a disorder of milk metabolism? Read on: doi.org/10.1002/jimd...

submitted 29 days ago • 0 comments

New podcast on alpha-mannosidosis and the long term efficacy of ERT with velmanse alfa. Listen on Spotify: open.spotify.com/episode/4Ghs... Apple: podcasts.apple.com/gb/podcast/j... Soundcloud: soundcloud.com/user-1090061...

submitted 32 days ago • 0 comments

In GSD III even early diagnosis may not prevent the progression of severe liver disease. This new report looks at the outcome of Liver Transplantation in three patients with GSD III. Link: doi.org/10.1002/jmd2...

submitted 37 days ago • 0 comments

We have just shared an Obituary for the incredible Professor Ishwar Chander Verma who passed away last year. This celebrates a man who helped changed the face of IMD care across the world and impacted the lives of countless patients and their families. doi.org/10.1002/jimd...

submitted 39 days ago • 0 comments

A new interactive online tool developed by Australian Genomics provides easy and accessible information in bite-sized chunks to guide patients through the key concepts of genomic testing. Learn more: www.australiangenomics.org.au/new-online-c... #genomics #genomictesting #consent #onlinetool

submitted 40 days ago • 0 comments

CBS deficiency has a wide range of severity from childhood presentations with learning difficulty, eye and skeletal anomalies to apparently asymptomatic adults experiencing thrombo-embolism. This new paper, looks at treatment info from the EHOD registry doi.org/10.1002/jimd...

submitted 49 days ago • 0 comments

Of the 70 Lysosomal Storage Disorders (LSDs), at least 30 present with central nervous system (CNS) neurodegeneration and overlapping aetiology. However, the underlying pathophysiology is not fully understood. Read on here: doi.org/10.1002/jimd...

submitted 46 days ago • 0 comments

The second new paper of the day and this is exploring language and communication issues in Batten Disease. Speech, Language and Non-verbal Communication in CLN2 and CLN3 Batten Disease Lottie Morison, et al doi.org/10.1002/jimd...

submitted 46 days ago • 0 comments

A flurry of new reports in JIMD Reports in the last 24 hours, first off we have this: Phenotypic variability and the gender paradox in the R363C variant of Fabry disease Alison Leslie, et al doi.org/10.1002/jmd2... #fabry

submitted 46 days ago • 0 comments

Is there a more compelling case for a ketogenic diet that GLUT1DS? This is undoubtedly a highly successful intervention but, what if your patient is unable to tolerate a ketogenic diet? Could D,L-3-hydroxybutyrate supplementation be helpful? Read on: doi.org/10.1002/jmd2...

submitted 46 days ago • 0 comments

Final new Reports article of the day: Does p-lactate increase in patients with GSD1 after ingesting a meal with common-size sources of fructose and galactose? Observations from a prospective, non-blinded, crossover pilot study Carøe & Lund doi.org/10.1002/jmd2...

submitted 46 days ago • 0 comments

I cannot recall sharing any papers reflecting experience with IMD in Sri Lanka so this paper is something of a first: Genotypic Spectrum in a Cohort of Sri Lankan Patients With Homocystinuria Hewa Warawitage Dilanthi, et al doi.org/10.1002/jmd2... #homocystinuria #HCU #CBSdeficiency

submitted 42 days ago • 0 comments

5 different genes are involved in the biosynthesis and regeneration of BH4. In this paper, Jarrah et al present 10 patients with disorders of Biopterin Metabolism cared for in a single-centre. Omar Jarrah, et al doi.org/10.1002/jmd2...

submitted 42 days ago • 0 comments

Hot on the heels of a a recent review article on Cell Trafficking disorders, here's a report about a possible treatment that also interacts with autophagy pathways. First #visualabstract of 2025! doi.org/10.1002/jimd... @OyarzabalSanz #autophagy #celltrafficking #raredisease

submitted 41 days ago • 0 comments

Our latest podcast discusses #autophagy, #fasting, and #ketogenicdiets, IMD has never been so trendy! Listen on Soundcloud: soundcloud.com/user-1090061... Spotify: open.spotify.com/episode/2roF... Apple: podcasts.apple.com/gb/podcast/a... or wherever you get your podcasts.

submitted 46 days ago • 1 comment

Hot on the heels of a a recent review article on Cell Trafficking disorders, here's a report about a possible treatment that also interacts with autophagy pathways. First #visualabstract of 2025! doi.org/10.1002/jimd... @OyarzabalSanz #autophagy #celltrafficking #raredisease

submitted 41 days ago • 0 comments

5 different genes are involved in the biosynthesis and regeneration of BH4. In this paper, Jarrah et al present 10 patients with disorders of Biopterin Metabolism cared for in a single-centre. Omar Jarrah, et al doi.org/10.1002/jmd2...

submitted 42 days ago • 0 comments

I cannot recall sharing any papers reflecting experience with IMD in Sri Lanka so this paper is something of a first: Genotypic Spectrum in a Cohort of Sri Lankan Patients With Homocystinuria Hewa Warawitage Dilanthi, et al doi.org/10.1002/jmd2... #homocystinuria #HCU #CBSdeficiency

submitted 42 days ago • 0 comments

Now live - our review of neurodegeneration in lysosomal storage disease - comparing and contrasting disease mechanisms; emerging evidence of unifying convergence @jimd-editors.bsky.social @ucl-ifwh.bsky.social onlinelibrary.wiley.com/doi/10.1002/...

submitted 45 days ago • 1 comment