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Just 18% of Inherited Metabolic Disorders have a treatment, but which ones are they and how can you find out more? Spotify: open.spotify.com/episode/6cjKqA… SoundCloud: on.soundcloud.com/jX7btdP6sTeNiL… Apple: podcasts.apple.com/gb/podcast/jim… Or wherever you get your podcasts. #raredisease #treatment

Demonstrate how #multiomics approaches can strengthen insights into #MetabolicDisease🧬 Join a fantastic speaker lineup at #MetabolicMultiomics25 Raise your profile at the intersection of research & technology📈 📎bit.ly/3DPrXr6 ✍️Abstracts due: 18 March #metabolomics

#AI rounds in #Pedineurorad: This week we review another mitochondrial disorder driven by ECHS1 (Enoyl-CoA Hydratase Short Chain 1) deficiency. ECHS1 is a key enzyme in mitochondrial fatty acid beta-oxidation, specifically catalyzing the second step: the hydration of

The "Metabolic Mysteries" series returns with a discussion of a 13-month-old girl with hypoglycaemia. Dr Ashlee Stiles clearly shows why critical sample collection is key and reminds all of us: Don't forget the urine! Listen here: open.spotify.com/episode/4PxnR8… soundcloud.com/user-109006120…

No 11 of the top 100 Genetics Podcasts. I’ll take that. There’s never been a better time to start listening to the JIMD Podcast.

In The Journal of Inherited Metabolic Disease' podcast, “Exploring RNA therapeutics for Urea Cycle Disorders” with Dr. Lourdes Ruiz Desviat, gives a brief overview of the broad variety of approaches taken and the progress being made from bench to bedside.

Silent genes whisper, Metabolic paths diverge, Kyoto’s grace heals all. Registration and Abstract Submission is now open for the ICIEM 2025 meeting in Kyoto. site2.convention.co.jp/iciem2025/welc…

The Therapeutic Future for Congenital Disorders of Glycosylation Read it here: 👉onlinelibrary.wiley.com/doi/full/10.10… Ethan Perlstein bio/acc World CDG Organization

The refreshing summer drink that could hospitalise your child!! (Skip the hyperbole and find the full paper here: adc.bmj.com/content/archdi…) Sharing from an IMD account because ketotic hypoglycaemia and lactic acidosis looks like a possible metabolic disorder.

BIMDG 2025 Annual Meeting: 17 - 18 June 25 The British Inherited Metabolic Disease Group annual meeting is to take place in Edinburgh this year. It promises to be an entertaining & educational meeting and the organisers are asking for your involvement. delegate-reg.co.uk/bimdg2025/

Fascinating new Report about a child with a diagnosis of Propionic acidemia who followed a very unusual clinical course and this forced the clinical team to consider the possibility of a second genetic diagnosis. doi.org/10.1002/jmd2.1…

Spring Bulletin out now. 2025 has seen a number of changes including a new website, revamped guidelines and now a new look bulletin. Take a moment to check it out: sway.cloud.microsoft/Y0op9P0XkO25hf…

In this new publication in #JIMDReports Marli Dercksen et al describe the… Diagnosis of Primary Trimethylaminuria in an Affected Patient With a Rare Genotype in Sub-Saharan Africa doi.org/10.1002/jmd2.7…

In this new publication Eva Hoytema van Konijnenburg et al start… Setting the Stage for Treatment of Aminoacyl-tRNA Synthetase (ARS)1-Deficiencies: Phenotypic Characterization and a Review of Treatment Effects doi.org/10.1002/jimd.7…

Friday is podcast day 👉 soundcloud.com/user-109006120… 🎧 Jessica Gold discusses executive function in MSUD and its impact on transition. Spotify: open.spotify.com/episode/5Z9TF5… Or search for "JIMD Podcasts" Ready Steady Go SCH

I'm deeply honored to join Journal of Innate Metabolism as a member of the Senior Editorial Board and very grateful to Prof. Andrea Pession,chair of the Italian Society for the Study of IMD and editor-in-chief of the journal for placing so much trust in me jim.simmesn.org