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Dr Mrinmayee Takle and Dr Kuntal Sen discuss the challenging dilemma of a child, presenting from infancy with recurrent seizures and three different (wrong) diagnoses including opsoclonus-myoclonus-ataxia syndrome.
Read the article: https://doi.org/10.1002/cns3.20098
Mrinmayee Takle, Dhwani Sahjwani, Diana Bharucha-Goebel, Tyler Rapp, Cecilia Bouska, Alexandra Kornbluh, Kuntal Sen -
Treatment is available for most intoxication-type disorders, but would you know what to do in an emergency. In this podcast, Dr Dexter Tarr discusses the acute management when these conditions cause encephalopathy, seizures, stroke-like episodes, thromboses, liver failure, cardiac failure, arrhythmias and rhabdomyolysis.
Emergency Management of Intoxication-Type Inherited Metabolic Disorders
J. Dexter Tarr, Andrew A. M. Morris
https://doi.org/10.1002/jimd.70007 -
Fehlende Folgen?
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Michel Tchan and Mirjam Langeveld join the podcast to look at changes to adult IMD services over the last decade and consider the challenge to develop services to meet the needs of growing patient numbers over the next 10 years.
The Frequencies of Different Inborn Errors of Metabolism in Adult Metabolic Centres: 10 Years Later, Another Report From the SSIEM Adult Metabolic Physicians Group
Michel Tchan, et al
https://doi.org/10.1002/jimd.70005 -
Dr Sabine Fuchs, Professor of Metabolic diseases and innovative therapies at the UMC Utrecht, and Dr Sean Froese, a Principal Investigator in the Metabolism Division at University Children’s Hospital Zürich, join Rodrigo and Silvia to discuss new insights and some of their favourite papers on Methylmalonic Aciduria.
Authors opinions are their own and do not represent their institutions.
Papers discussed include:
Integrated multi-omics reveals anaplerotic rewiring in methylmalonyl-CoA mutase deficiency
Forny et al
Aberrant methylmalonylation underlies methylmalonic acidemia and is attenuated by an engineered sirtuin.
Head et al
Lipodystrophy in methylmalonic acidemia associated with elevated FGF21 and abnormal methylmalonylation.
Manoli et al
Prime editing for functional repair in patient-derived disease models
Schene et al
Mutation-specific reporter for optimization and enrichment of prime editing
Schene et al
Biomarkers to predict disease progression and therapeutic response in isolated methylmalonic acidemia.
Manoli et al
Fibroblast growth factor 21 as a biomarker for long-term complications in organic acidemias.
Molema et al -
Lucas Agnoletto and Dr Rebecca Halligan report work looking at sleep quality in children with hepatic GSDs, considering whether sleep is impacted by poor glycemic control or our efforts to improve this through overnight feeding.
Sleep quality in children with hepatic glycogen storage diseases, a prospective observational pilot study
Lucas Agnoletto, et al
https://doi.org/10.1002/jmd2.12462 -
Dr Carole Linster and Dr Nicole van Bergen explain why metabolism isn't perfect and how disorders of enzyme repair present their own challenges. In an episode that explores Niacin and longevity, we also hear why NAXD deficiency is an important differential in acute cardiomyopathy and provides an aetiology that could be highly amenable to treatment.
Clinical and biochemical distinctions for a metabolite repair disorder caused by NAXD or NAXE deficiency
Nicole J. Van Bergen, et al
https://doi.org/10.1002/jimd.12541
NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses
Nicole J Van Bergen, et al
https://doi.org/10.1093/brain/awy310
Severe NAD(P)HX Dehydratase (NAXD) Neurometabolic Syndrome May Present in Adulthood after Mild Head Trauma
Nicole J Van Bergen, et al
https://doi.org/10.3390/ijms24043582 -
Asthik Biswas, Spyros Batzios, and Kshitij 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.
Imaging readiness in the gene therapy era-exploring standardized protocols for response assessment
Asthik Biswas, et al
https://doi.org/10.1002/jimd.12828 -
Dr Matthew Wilson, Postdoctoral Fellow at the Centre for Human Genetics, KU Leuven, joins hosts Silvia Radenkovic and Rodrigo Starosta to discuss a scintillating selection of CDG papers in our first ever research round-up.
Authors opinions are their own and do not represent their institutions.
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
Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort
Lam et al -
It's an Arg1 extravaganza as Reena Sharma, Sara Olofsson, Karolina 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 cost of the condition.
Retrospective analysis of arginase 1 deficiency progression in adults over 5 years at a single metabolic centre
Reena Sharma et al
https://doi.org/10.1002/jmd2.12450
Disease burden among patients with Arginase 1 deficiency and their caregivers: A multinational, cross-sectional survey
Sara Olofsson et al
https://doi.org/10.1002/jmd2.12456
Societal costs and quality of life associated with arginase 1 deficiency in a European setting – a multinational, cross-sectional survey
Sara Olofsson et al
https://doi.org/10.1080/13696998.2024.2400856 -
Marshall Summar explains why common polymorphisms and basic physiology mean that L-citrulline may have a role in sickle cell disease, bronchopulmonary dysplasia and even asthma.
Potential therapeutic uses of L-citrulline beyond genetic urea cycle disorders
Marshall Summar
https://doi.org/10.1002/jimd.12810 -
Dr Ashlee Stiles discusses the work-up of a 13-month-old girl with hypoglycaemia and discusses the need to balance prompt metabolic work-up with managing the acutely unwell patient in front of you. Critical sample collection is key and don't forget the urine.
Read the report here: https://www.sciencedirect.com/science/article/pii/S2214426924000156?via%3Dihub -
In this Metabolic Mystery, Dr Eamon McCarron unravels an unexpected diagnosis in a 55-year-man with a 2-year history of dragging his legs, poor balance, and paresthesia along the outer aspect of his right thigh. He underwent various assessments and investigations over the next 3 years before a diagnosis was made.
https://onlinelibrary.wiley.com/doi/full/10.1002/ajmg.a.64031# -
Dr Jessica Gold discusses observations around executive function in early treated MSUD patients and how this impacts on outcomes around transition to adulthood.
Executive and adaptive function impacts long-term outcomes for adults with maple syrup urine disease
Jessica I. Gold, et al
https://doi.org/10.1002/jimd.12827 -
Dr Thomas Cassini explains how the Undiagnosed Diseases Network group used advanced sequencing techniques to clarify the genotype in a child with an unusual phenotype for mitochondrial trifunctional protein deficiency.
Mitochondrial trifunctional protein deficiency caused by a deep intronic deletion leading to aberrant splicing
Thomas Cassini, et al
https://doi.org/10.1002/jmd2.12459 -
Dr Andrew Morris joins the podcast to discuss insights from 311 patients with CBS deficiency (classical homocystinuria), their response to treatment and clinical outcomes.
Cystathionine β-Synthase Deficiency in the E-HOD Registry—Part II: Dietary and Pharmacological Treatment
Andrew A. M. Morris, Jitka Sokolová, Markéta Pavlíková, Florian Gleich, Stefan Kölker, Carlo Dionisi-Vici, Matthias R. Baumgartner, Luciana Hannibal, Henk J. Blom, Martina Huemer, Viktor Kožich, E-HOD Consortium
https://doi.org/10.1002/jimd.12844 -
Eva Hoytema van Konijnenburg and Clara van Karnebeek tell the podcast about the treatabolome an epic project to include all current IMD treatments and add them to the IEMbase.
The Metabolic Treatabolome and Inborn Errors of Metabolism Knowledgebase therapy tool: Do not miss the opportunity to treat!
Bibiche den Hollander, et al
https://doi.org/10.1002/jimd.12835 -
Nathalie Guffon joins the podcast to discuss alpha-mannosidosis and the long term efficacy of enzyme replacement therapy with velmanse alfa.
Extended long-term efficacy and safety of velmanase alfa treatment up to 12 years in patients with alpha-mannosidosis
Nathalie Guffon, et al
https://doi.org/10.1002/jimd.12799 -
It seems everyone is talking about autophagy but what is it and what happens when it goes wrong? Hormos Salimi Dafsari, Carlo Dionisi-Vici, and Heinz Jungbluth join the podcast to answer these questions, discuss their experience across 3 (or 2.5) generations of clinical practice and why you never see an obese 100-year-old.
An update on autophagy disorders
Hormos Salimi Dafsari, et al
https://doi.org/10.1002/jimd.12798 -
Marie-Thérèse Henke, Alessandro Prigione, and Markus Schuelke get 2025 off to an informative start discussing why so many models exist for Leigh Syndrome, why we need them and how insights from disease models have led to Sildenafil being used in some patients.
Disease models of Leigh syndrome: From yeast to organoids
Marie-Thérèse Henke, Alessandro Prigione, Markus Schuelke
https://doi.org/10.1002/jimd.12804 - Mehr anzeigen
