Journal of Inherited Metabolic Disease

Join the SSIEM run team. You've heard about speed mentoring, well this year we're bringing you literal speedy mentors* and you can join them for an 8km run or a 3km walk from 7am on Wednesday 4th September. In order to help planning we're asking interested delegates to register their interest here 👉 https://lnkd.in/g7A2vwir And we're asking runners to make a small charity donation to a local group, here 👉 https://lnkd.in/g5YYGRkF We should be able to offer runners an exclusive t-shirt to reflect their involvement in this maiden meeting of the SSIEM Run Club making you the envy of all your friends and colleagues. Thank you to Ana Isabel Mendonça, Hugo Rocha and Maria Dulce Quelhas for turning an idle remark into an exciting new event. #seeyouinPorto SSIEM 2024 Annual Symposium *runners unlikely to be able to run and mentor but the company will be great!

How much B12 is too much, in Cobalamin C deficiency more is definitely better! Improved biochemical and neurodevelopmental profiles with high-dose hydroxocobalamin therapy in cobalamin C defect Giorgia Olivieri, Benedetta Greco, Sara Cairoli, Giulio Catesini, Francesca Romana Lepri, Lorenzo Orazi, Maria Mallardi, Diego Martinelli, Daniela Ricci, Raffaele Simeoli, Carlo Dionisi-Vici https://lnkd.in/gEpffT-h

The last of 3 recent Reports articles: Reduced guanidinoacetate in plasma of patients with autosomal dominant Fanconi syndrome due to heterozygous P341L GATM variant and study of organoids towards treatment Ignacio Alberto Portales Castillo, Rhea Singal, Anastasia Ambrose, Jong Hee Song, Minsoo Son, Young Ah Goo Wen Zhou, Avram Traum, Ariella Coler-Reilly, Benjamin Humphreys, Roberto Civitelli, Harald Jueppner, Andrew Lundquist, Peter Seres, Andrew S. Allegretti, and Saadet Mercimek-Andrews https://lnkd.in/ePqT5nNN

Sharing a flurry of recent articles during brief access to Wi-Fi whilst on holiday! Gaucher disease type 3c: Expanding the clinical spectrum of an ultra-rare disease John Wang, Rebecca Koch, PhD, RDN, LDN, Daniel K. (Apologies if miss-tagged), Erin Huggins, Sirajbir Sodhi, Andrew Landstrom, Dilraj Grewal, MD, FASRS, Priya Kishnani https://lnkd.in/e3GY3gxG #gaucher #LSD

In this new Reports article drawn from PICO data, Laura Hauri and colleagues pose an often asked question: Do early-treated adults with phenylketonuria sense high phenylalanine levels? Laura Hauri, Raphaela Muri, Regula Everts, Roman Trepp Answer here 👉🏻 https://lnkd.in/e3P2um8d #PKU

OMG😱 it’s finally here. the #SSIEM2024 book of abstracts is out now. https://lnkd.in/enc9dzZ2 SSIEM 2024 Annual Symposium

Happy to announce that one of my PhD research projects finally have found its home in FASEB BioAdvances. In this paper we demonstrate that skin fibroblasts from patients suffering from long-chain fatty acid oxidation disorders have significantly impaired response to LPS. The research paper is open access and can be found through the link below. https://lnkd.in/edvyZ9nD

The only problem with #SSIEM2024 is that there are so many exciting sessions happening at the same time. Why not kick start your conference by attending the Adult IMD session. The programme looks exciting, check it out below. 👇

New podcast Friday - Fatty Acid Homeostasis with Frédéric Vaz and Ronald Wanders. In this lively discussion covering salmon, extremophiles and clotted cream, Fred and Ron explain why you can't consider catabolism of fatty acids without also looking at anabolism and just how these complex pathways fit together. In an unusual turn for the podcast, Ron and Fred were both together when we recorded this and it was a delight to hear them chatting away about a field that they're both so passionate about. I hope you'll enjoy listening to them as much as I did. Check it out on Soundcloud 👉 https://lnkd.in/eJq-vA9v Apple 👉 https://lnkd.in/eSvs7nYs Or search for Fatty Acid Homeostasis wherever you like to listen. #fattyacids #podcasts #sciencecommunication

An interesting new publication looking at long-term health outcomes in adults with galactosemia across 12 countries. Despite differing approaches to screening, management in galactosemia is fairly consistent across the world and the prevalence of long-term complications across all domains is largely the same. This large dataset affirms previous findings that developmental outcomes are not progressive with age. Four modifiers were specifically considered: days of neonatal milk exposure, rigor of dietary galactose restriction in early childhood, current age, and home continent. However, the only findings significantly associated with these were cataracts with duration of neonatal milk exposure, cataracts and current age and bone health with home continent. Want to find out more? Click the link 👉 https://lnkd.in/gPSsDRc8 Health and well-being of maturing adults with classic galactosemia Olivia Garrett, Jared Druss, E. Naomi Vos, Yu-Ting Debbie Fu, Stephanie Lucia, Patricia Greenstein, Anna Bauer, Jolanta Sykut-Cegielska, Karolina M Stepien, Cameron Arbuckle, OLGA GRAFAKOU, Uta Meyer, Nele Vanhoutvin, Adriana Pané Vila, Annet Bosch, Estela Rubio-Gozalbo, Gerard Berry, Judith L. Fridovich-Keil #galactosemia #raredisease #adultoutcomes #milkexposure