Journal of Inherited Metabolic Disease

Important update! Thinking of submitting a poster abstract? Do not delay. Due to the high (and exciting!) volume of abstracts we will likely close abstract submission BEFORE May 15. Submit your abstract ASAP!

We love hearing about new observations, hopefully you do too. Check out this new publication from Anthi Demetriadou et al which looks to classify YME1L1 deficiency as a new type of secondary 3-MGCA, thus expanding the genetic landscape and facilitating the diagnosis of inherited metabolic disorders featuring this biochemical phenotype. YME1L1 Dysfunction Associated With 3-Methylglutaconic Aciduria Anthi Demetriadou, PhD, OLGA GRAFAKOU, Theodoros Georgiou, Daniela Burska, Anna Malekkou, Jana Krizova, Efstathia Paramera, Gavriella Mavrikiou, Maria Dionysiou, Athina Theodosiou, Carolina Sismani, Violetta Anastasiadou, Ioannis Ioannou, Evangelos Papakonstantinou, Hana hansikova, Anthi Drousiotou, Petros P. Petrou https://lnkd.in/eFNrHuTJ

There's a lot of talk about biomarkers at the moment so this review from Raphael Schiffmann is especially welcome. Dr Schiffmann takes the time to highlight that different biomarkers can have (very) different utility. Current excitement revolves around the use of biomarkers as surrogate end points in clinical trials and whether these reflect meaningful clinical endpoints. And there's a little #visualabstract Role of Biomarkers in Diagnosing Disease, Assessing the Severity and Progression of Disease, and Evaluating the Efficacy of Therapies Raphael Schiffmann https://lnkd.in/eSpVE_Ma #biomarkers #raredisease #lysosomalstoragedisorders #clinicaltrials

Register today to join us for our Fellow Journal Club on this coming Friday, April 25, 2025 at noon ET/11am CT/10am MT/9am PT Register here: https://lnkd.in/grGSxrdf The 2 journal articles that Tomas and Kaitlin will be reviewing are linked below: https://lnkd.in/gQhh8psw and https://lnkd.in/gjMjDP3n

Are you ready for gene therapies? Today's podcast (Tuesdays are the new Fridays), Asthik Biswas, Spyros Batzios, and Kish Mankad expand on their recent letter to the editor to explain why ushering in the new era of gene therapy treatments requires not just clinical but also imaging readiness. Listen on Spotify: https://lnkd.in/ek6Q36gR Or search for 'JIMD Podcasts' wherever you like to listen. We already have centralised, highly specialist biochemical tests but performing and reporting imaging typically falls to local teams, even when considering ultra rare disease where experience with the findings in question may be low or non-existent. This podcast explores the role for specialised neuroimaging from diagnostics, through delivery and effect monitoring, challenging all of us to consider what needs to be done to be ready for the gene therapy era! #genetherapy #podcast #inheritedmetabolicdisease #inbornerrorsofmetabolism

New in #JIMDReports Self-Reported Liver Disease and the Burden of Erythropoietic Protoporphyria Hetanshi Naik, Kristen Wheeden, Hilary Colwell, Susan Mathias, Chelsea (Mencio) Norregaard, PhD, MPH, Melanie Chin, William Savage, Manisha Balwani, MD, MS, FACMG https://lnkd.in/e5iMTnip

Abstract submission is now CLOSED: - Notification of Abstract Acceptance: Mid-June, 2025 - Submission of Late-breaking Abstracts: June 2 - June 20, 2025, 11:59 PM JST The Abstract submission deadline for #ICIEM2025 was extended until Monday April 21, 2025, (11:59 PM-JST) That means you have a little over 24 hours to submit your abstract. Abstracts have to be submitted exclusively online: https://lnkd.in/eA8vPB8y Submission of Late-breaking Abstracts: June 2 - June 20, 2025, 11:59 PM Please note that abstracts already submitted will not be accepted as Late-breaking abstracts. IMPORTANT: If you are experiencing errors uploading your abstract please note that certain characters: (,),<,>,-, and ' (and there may be more), must be replaced with HTML code. Happy to try and troubleshoot if you are struggling.

Abstract submission is now CLOSED: - Notification of Abstract Acceptance: Mid-June, 2025 - Submission of Late-breaking Abstracts: June 2 - June 20, 2025, 11:59 PM JST The Abstract submission deadline for #ICIEM2025 was extended until Monday April 21, 2025, (11:59 PM-JST) That means you have a little over 24 hours to submit your abstract. Abstracts have to be submitted exclusively online: https://lnkd.in/eA8vPB8y Submission of Late-breaking Abstracts: June 2 - June 20, 2025, 11:59 PM Please note that abstracts already submitted will not be accepted as Late-breaking abstracts. IMPORTANT: If you are experiencing errors uploading your abstract please note that certain characters: (,),<,>,-, and ' (and there may be more), must be replaced with HTML code. Happy to try and troubleshoot if you are struggling.

New educational program coming from the National Urea Cycle Disorders Foundation, first session is next week on the Recognition and Testing of Urea Cycle Disorders. There’s always huge intestest in this topic. It’s little wonder that one of our most listened to podcasts is: Why everyone needs to know about urea cycle disorders 👇 https://lnkd.in/e_-tnfzz

Tuesdays are the new Fridays! Maybe not, but this Tuesday is an exciting one as we're bringing you an all new podcast: Episode 1 of our new Research Round-up series. CDG Research Round-up: Spotify: https://lnkd.in/eM8jQ95W The research round-up addresses some of the limitations of the current format: typically limited to single papers, many papers effectively excluded due to where they are published, and a host without specific expertise in the field. In this new series, Silvia Radenkovic, a Laboratory Biochemical Genetics Fellow in Utrecht, and Rodrigo Starosta, a clinical and biochemical geneticist caring for paediatric and adult patients in Portland, Oregon, welcome early career researchers and established stars and invite them to bring some of their own papers and others that have caught their attention. In the first episode Dr Matthew Wilson, a post doctoral researcher at KU Leuven who has already made some significant contributions to the CDG field, joins Silvia and Rodrigo to discuss content drawn from 11 different recent publications. Listen in as Silvia, Rodrigo and Matt chat about new ideas and possible therapies in Congenital Disorders of Glycosylation. Spotify: https://lnkd.in/eM8jQ95W Or wherever you like to listen, just search for JIMD Podcasts. The papers discussed include: A pseudoautosomal glycosylation disorder prompts the revision of dolichol biosynthesis.   Wilson et al Clinical and biochemical footprints of congenital disorders of glycosylation: Proposed nosology.  Ng et al Rft1 catalyzes lipid-linked oligosaccharide translocation across the ER membrane.  Chen et al Molecular characterization of Rft1, an ER membrane protein associated with congenital disorder of glycosylation RFT1-CDG.  Hirata et al Genome and RNA sequencing were essential to reveal cryptic intronic variants associated to defective ATP6AP1 mRNA processing.  Morales-Romero et al N-glycoproteomic and proteomic alterations in SRD5A3-deficient fibroblasts.  Garapati et al In vitro treatment with liposome-encapsulated Mannose-1-phosphate restores N-glycosylation in PMM2-CDG patient-derived fibroblasts.  Shirakura et al Liposome-encapsulated mannose-1-phosphate therapy improves global N-glycosylation in different congenital disorders of glycosylation.  Budhraja et al D-mannose as a new therapy for fucokinase deficiency-related congenital disorder of glycosylation (FCSK-CDG).  Starosta et al Glycoproteomics in Cerebrospinal Fluid Reveals Brain-Specific Glycosylation Changes.  Baerenfaenger et al Neural and metabolic dysregulation in PMM2-deficient human in vitro neural models. Radenkovic et al #CDG #raredisease