Journal of Inherited Metabolic Disease

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

New in the main journal. MCADD is one of the most common IMDs and a consistent presence on newborn screening. However, we still have significant gaps in our understanding of the condition, not least the inconsistent genotype-phenotype correlation. This new publication looks at the role of liver organoids in expanding our understanding of the condition. iPSC-Derived Liver Organoids as a Tool to Study Medium Chain Acyl-CoA Dehydrogenase Deficiency Ligia Akemi Kiyuna, José Manuel Horcas Nieto, Christoff Odendaal, Miriam Langelaar-Makkinje, Albert Gerding, Mathilde Broekhuis, Flavio Bonanini, Madhulika Singh, Dorota Kurek, Amy Harms, Thomas Hankemeier, Floris Foijer, Terry Derks, and Barbara Bakker https://lnkd.in/efVaC53e

DEADLINE EXTENDED to 21st April 23:59 JST. #ICIEM2025 Abstract Submission FINAL CALL Don't get caught out by the time difference, abstract submission closes on the 14th April at 23:59 JST. This means some of you might be waking up to an imminent deadline. The organisers would love you to be a part of this fantastic meeting in a stunning venue. "Better three hours too soon than a minute too late" https://lnkd.in/eA8vPB8y Your abstract requires HTML formatting as certain characters cannot be included, you will need to swap ', (), <> and - for html codes. Check the link in the comments for a helpful site. (This is massively frustrating especially when you can't spot the character leading to errors).

DEADLINE EXTENDED to 21st April 23:59 JST. #ICIEM2025 Abstract Submission FINAL CALL Don't get caught out by the time difference, abstract submission closes on the 14th April at 23:59 JST. This means some of you might be waking up to an imminent deadline. The organisers would love you to be a part of this fantastic meeting in a stunning venue. "Better three hours too soon than a minute too late" https://lnkd.in/eA8vPB8y Your abstract requires HTML formatting as certain characters cannot be included, you will need to swap ', (), <> and - for html codes. Check the link in the comments for a helpful site. (This is massively frustrating especially when you can't spot the character leading to errors).

In 4 Days!! ICIEM25* ABSTRACT DEADLINE: Monday, April 14, 2025 https://lnkd.in/eA8vPB8y (*In order to apply for an SIMD Travel award, an abstract must be submitted to ICIEM25 first) In 20 Days!! SIMD TRAVEL AWARD* ABSTRACT DEADLINE: Wednesday, April 30, 2025 https://lnkd.in/eGk78y2h #Inbornerrorsofmetabolism #inheritedmetabolicdisorders #ICIEM25

Out latest podcast is an Arg1 extravaganza as Reena Sharma, Sara Olofsson, Karolina M Stepien and Alison Woodall discuss three separate papers looking at the Salford Royal experience of a cohort of adults with Arginase 1 deficiency and the wider health and societal burden of the condition. We often consider the clinical phenotype of diseases and the underlying pathomechanisms but these papers present an opportunity to think on the reality of those problems for the patients and families that live with them. Understanding the true 'cost' of a condition can be a key part of getting health and government agencies to see the real impact of not providing treatments and the true saving of funding/reimbursing new therapies. Listen on Spotify: https://lnkd.in/e7NNfFTh or search for "JIMD Podcasts" wherever you like to listen. The three papers under discussion are: Retrospective analysis of arginase 1 deficiency progression in adults over 5 years at a single metabolic centre Reena Sharma, John Bassett, Karolina M. Stepien, Andy Oldham, Ana Jovanovic, Alison Woodall, Diane Green Disease burden among patients with Arginase 1 deficiency and their caregivers: A multinational, cross-sectional survey Sara Olofsson, Sofia Löfvendahl, Julia Widén, Lena Jacobson, Peter Lindgren, Karolina M. Stepien, Jean-Baptiste Arnoux, Maria Luz Couce Pico, Elisa Leão Teles, Mattias Rudebeck Societal costs and quality of life associated with arginase 1 deficiency in a European setting – a multinational, cross-sectional survey Sara Olofsson et al #podcast #raredisease #arginase1def #arg1 #ureacycledisorder

The #ICIEM2025 Abstract submission deadline is fast approaching. Click here to submit your abstract: https://lnkd.in/eA8vPB8y Deadline: Mon. April 14, 2025 (11:59 PM-JST) Abstracts have to be submitted exclusively online. Submission of Late-breaking Abstracts: June 2 - June 20, 2025, 11:59 PM (JST) Please note that abstracts already submitted will not be accepted as Late-breaking abstracts. Abstract Submission Guidance - All abstracts must be submitted in English. - Abstract title: up to 25 words - Abstract body: up to 400 words - Affiliation: up to 10 - Co-authors: up to 15 - Abstracts must not contain any graphics, tables, pictures, or other types of figures. - Please refer to abstract submission page and character code table here for details about using symbols or special characters.

Today, April 8, 2025, the Society for Inherited Metabolic Disorders (SIMD) sent a letter to U.S. Department of Health and Human Services (HHS) Secretary Kennedy regarding the termination of the Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC). Please read and share the SIMD letter here: https://lnkd.in/edGjnejB #newbornscreening #inheritedmetabolicdisorders #inbornerrorsofmetabolism

We often bring you updates on new conditions but this latest paper brings a novel word, to me at least: Chaperonopathy! Mroz et al describe insights into the function of CLPB. CLPB deficiency has previously found itself classified as MGA7 amongst the secondary 3-methylglutaconic acidurias and, whilst it leads to neurological involvement like other MGAs, it is characterised by bilateral cataracts observed from birth or in infancy. Monoallelic disease has also been reported with variants associated with profound neutropenia. Read on to discover why this changes in this gene lead to both recessive and dominant pathologies. CLPB Deficiency, a Mitochondrial Chaperonopathy With Neutropenia and Neurological Presentation D. Mróz, J. Jagłowska, Ron Wevers, Syzmon Ziętkiewicz https://lnkd.in/eU8Vhj8Q

This course on Emergencies in Neurometabolic Disorders looks great. Register now.