JIMD Podcasts

Follow JIMD Podcasts
Share on
Copy link to clipboard

Journal of Inherited Metabolic Disease (JIMD) podcasts

Journal of Inherited Metabolic Disease


    • May 27, 2025 LATEST EPISODE
    • weekly NEW EPISODES
    • 16m AVG DURATION
    • 215 EPISODES


    Search for episodes from JIMD Podcasts with a specific topic:

    Latest episodes from JIMD Podcasts

    Shortcast: Sleep quality in children with hepatic GSDs, a prospective observational pilot study

    Play Episode Listen Later May 27, 2025 8:38


    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

    IEMs in Adult Metabolic Centres: 10 Years Later

    Play Episode Listen Later May 20, 2025 22:50


    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

    IMD Research Round-Up: Methylmalonic Aciduria

    Play Episode Listen Later May 13, 2025 34:17


    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

    NAXD deficiency

    Play Episode Listen Later Apr 29, 2025 32:57


    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

    Imaging readiness in the gene therapy era

    Play Episode Listen Later Apr 22, 2025 22:54


    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

    IMD Research Round-Up: Congenital Disorders of Glycosylation

    Play Episode Listen Later Apr 15, 2025 39:58


    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. 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

    Exploring the disease burden in Arginase 1 deficiency

    Play Episode Listen Later Apr 11, 2025 27:51


    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 burden 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

    Shortcast: D,L-3-hydroxybutyrate in the treatment of glucose transporter 1 deficiency syndrome (Glut1DS)

    Play Episode Listen Later Apr 3, 2025 4:46


    In this Shortcast, Dr Aya Amer presents the New Zealand experience of using ketone (D,L-3-HB) supplementation in 12 patients (aged 10-50 years) with GLUT1DS. D,L-3-hydroxybutyrate in the treatment of glucose transporter 1 deficiency syndrome (Glut1DS) Aya Amer, et al https://doi.org/10.1002/jmd2.12461

    Citrulline: beyond the urea cycle

    Play Episode Listen Later Mar 28, 2025 26:29


    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

    Metabolic Mysteries: New weakness, poor balance and paresthesia at 55 years of age

    Play Episode Listen Later Mar 20, 2025 7:00


    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#

    Transition & executive function in MSUD

    Play Episode Listen Later Mar 14, 2025 16:30


    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

    Metabolic Mysteries: Hypoglycemia? Don't forget the urine

    Play Episode Listen Later Mar 6, 2025 6:11


    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

    Shortcast: TFP deficiency caused by a deep intronic deletion leading to aberrant splicing

    Play Episode Listen Later Feb 19, 2025 3:05


    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

    The Treatabolome: Don't miss the chance to treat!

    Play Episode Listen Later Jan 28, 2025 22:40


    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

    CBS Deficiency in the E-HOD Registry

    Play Episode Listen Later Jan 28, 2025 15:58


    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

    Velmanase alfa for alpha-mannosidosis

    Play Episode Listen Later Jan 28, 2025 25:34


    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

    An update on autophagy disorders

    Play Episode Listen Later Jan 2, 2025 49:08


    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

    Models in Leigh Syndrome

    Play Episode Listen Later Dec 27, 2024 41:44


    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

    KAMPER: Kuvan (BH4) in phenylketonuria

    Play Episode Listen Later Dec 20, 2024 25:38


    Dr François Feillet returns to the podcast to discuss the final results of the KAMPER study, evaluating the long-term safety of sapropterin in phenylketonuria (phenylalanine hydroxylase deficiency). Long-term safety of sapropterin in paediatric and adult individuals with phenylalanine hydroxylase deficiency: Final results of the Kuvan® Adult Maternal Paediatric European Registry multinational observational study François Feillet, et al https://doi.org/10.1002/jimd.12796

    Dietary management in GSD type 3a

    Play Episode Listen Later Dec 5, 2024 19:08


    Dr Sema Kalkan Uçar joins the podcast to discuss the merits of a high protein, high fat diet for the management of patients with Glycogen Storage Disease type 3a. Long-term personalized high-protein, high-fat diet in pediatric patients with glycogen storage disease type IIIa: Evaluation of myopathy, metabolic control, physical activity, growth, and dietary compliance Sema Kalkan Uçar, et al https://doi.org/10.1002/jimd.12741

    Footprints of IMD: Psychiatric presentations... with Gabriella Horvath

    Play Episode Listen Later Dec 2, 2024 13:34


    Dr Gabriella Horvath returns for her second visit to the podcast, joining Eva Morava to discuss psychiatric presentations of Inherited Metabolic Disease. Read the referenced paper here: https://doi.org/10.1016/j.ymgme.2020.02.007 Find IMDs associated with psychiatric presentations at: http://iembase.org/gamuts/store/docs/Psychiatric_IMD_gamuts.pdf

    Shortcast: Two successful pregnancies in patients taking Volanesorsen for FCS

    Play Episode Listen Later Nov 29, 2024 8:09


    In this Shortcast Antonio Ochoa-Ferraro and Dr Charlotte Dawson share their experience using the medication Volanesorsen with two pregnant women diagnosed with familial chylomicronemia syndrome. Two successful pregnancies in patients taking Volanesorsen for familial chylomicronemia syndrome Subadra Wanninayake, et al https://doi.org/10.1002/jmd2.12435

    RNA based therapies in Urea Cycle Disorders

    Play Episode Listen Later Nov 21, 2024 15:03


    In the latest podcast, Dr Lourdes Desviat provides an overview of the different RNA based therapeutic approaches including how they work and which are showing promise for the management of Urea Cycle Disorders. Exploring RNA therapeutics for urea cycle disorders Eva Richard, Ainhoa Martínez-Pizarro, Lourdes R. Desviat https://doi.org/10.1002/jimd.12807

    Brain changes in infantile Pompe disease

    Play Episode Listen Later Nov 5, 2024 21:50


    Dr Hannerieke van den Hout of Erasmus MC joins the podcast to discuss observations from two decades of early treated infantile onset Pompe disease and the evolving nature of the neurological phenotype. Long term survival in patients with classic infantile Pompe disease reveals a spectrum with progressive brain abnormalities and changes in cognitive functioning van den Dorpel, et al https://doi.org/10.1002/jimd.12736

    Shortcast: Metabolic management of a successful pregnancy in FBPase deficiency

    Play Episode Listen Later Nov 1, 2024 6:40


    Callie Ferguson discusses her group's care for a young woman with FBPase deficiency during pregnancy and beyond. Metabolic management of a successful pregnancy and postpartum complications in fructose-1,6-bisphosphatase deficiency Callie Ferguson, Anita Madison, Ada Hamosh, Celide Koerner https://doi.org/10.1002/jmd2.12453

    Gene therapy for mitochondrial disorders

    Play Episode Listen Later Oct 25, 2024 26:07


    Professor Shamima Rahman and Dr Nandaki Keshavan take us on a whistle stop tour of the different approaches taken to gene therapy in mitochondrial disease and why some may work better than others. Gene therapy for mitochondrial disorders Nandaki Keshavan, Michal Minczuk, Carlo Viscomi, Shamima Rahman https://doi.org/10.1002/jimd.12699

    Adult outcomes in classic galactosemia

    Play Episode Listen Later Oct 11, 2024 35:05


    Olivia Garrett, Jared Druss, Estela Rubio-Gozalbo, Gerard Berry, and Judith Fridovich-Keil discuss outcomes in classic galactosemia drawn from patient surveys of 97 adults. Health and well-being of maturing adults with classic galactosemia Olivia S. Garrett, Jared J. Druss, E. Naomi Vos, Yu-Ting Debbie Fu, Stephanie Lucia, Patricia E. Greenstein, Anna Bauer, Jolanta Sykut-Cegielska, Karolina M. Stepien, Cameron Arbuckle, Olga Grafakou, Uta Meyer, Nele Vanhoutvin, Adriana Pané, Annet M. Bosch, Estela Rubio-Gozalbo, Gerard T. Berry, Judith L. Fridovich-Keil https://doi.org/10.1002/jimd.12786

    Footprints of IMD: Metabolic cardiovascular disease... with Carlos Ferreira

    Play Episode Listen Later Oct 4, 2024 29:37


    Professor Carlos Ferreira joins Eva Morava to discuss the metabolic cardiovascular disease and explain why cardiac involvement is common in IMDs and when an underlying metabolic should be suspected in a cardiac presentation. Read the referenced paper here: https://doi.org/10.1016/j.ymgme.2020.12.290 Find IMDs associated with epilepsies at: http://www.iembase.org/gamuts/store/docs/GAMUTS_Supplemental_table%202_footprints_4_181220.pdf

    Neuronopathic gaucher disease

    Play Episode Listen Later Sep 27, 2024 25:15


    Originally presented at the SSIEM 2023 Annual Symposium, Dr Ozlem Goker-Alpan discusses neuronopathic gaucher disease, regional variations and hopes for new treatments. Neuronopathic Gaucher disease: Rare in the West, common in the East Ozlem Goker-Alpan, Margarita M. Ivanova https://doi.org/10.1002/jimd.12749

    Chorioretinopathy In LCHADD

    Play Episode Listen Later Sep 13, 2024 14:25


    Dr Melanie Gillingham, PhD, RD, joins the podcast to discuss eye disease in LCHADD and changes in outcomes following early or late diagnosis. Early diagnosis and treatment by newborn screening (NBS) or family history is associated with improved visual outcomes for long-chain 3-hydroxyacylCoA dehydrogenase deficiency (LCHADD) chorioretinopathy Melanie B. Gillingham, et al https://doi.org/10.1002/jimd.12738

    Footprints of IMD: Metabolic myopathies... with Corrado Angelini

    Play Episode Listen Later Sep 9, 2024 17:59


    Professor Corrado Angelini joins Eva Morava to discuss the footprints of metabolic myopathies, why they are so common and when they should be suspected. Read the referenced paper here: https://doi.org/10.1016/j.ymgme.2022.09.004 Find IMDs associated with epilepsies at: http://www.iembase.org/gamuts/store/docs/Footprints_myopathies_table%20151022.pdf

    SSIEM 2024 Day 4 - One eye on Porto, one on Kyoto

    Play Episode Listen Later Sep 6, 2024 10:12


    Concluding our limited series related to the SSIEM 2024 meeting in Porto. We reflect on Day 3 and modelling disease through organoids, nursing in IMD investigation of hypoglycaemia. We also hear more about dolichol metabolism and George Komrower.

    SSIEM2024 Day 3 - Definitely not brains in jars

    Play Episode Listen Later Sep 5, 2024 9:09


    Thoughts on the second day of SSIEM 2024 annual symposium and a little preview of day 3.

    SSIEM2024 Day 2 - Should we screen new adults?

    Play Episode Listen Later Sep 4, 2024 7:07


    A look back on the first day of the SSIEM 2024 Annual Symposium and a preview of Day 2 with Rodrigo Starosta co-hosting.

    SSIEM2024 Day 1 - Making you feel uncomfortable

    Play Episode Listen Later Sep 2, 2024 11:20


    The first of a series of podcasts accompanying the 2024 annual symposium of the SSIEM 2024. In this episode Dr Dulce Quelhas reflects on her plans for the meeting and just how long it has been gestating. Stay tuned for daily content.

    Flies, plants and classic galactosemia

    Play Episode Listen Later Aug 30, 2024 21:19


    Professor Judy Fridovich-Keil returns to the podcast to explain her work to illustrate whether the phenotype of galactosemia is related to GALT activity or galactose metabolism. Her group have been working with plant enzymes in fruit flies. Restoring galactose metabolism without restoring GALT rescues both compromised survival in larvae and an adult climbing deficit in a GALT-null D. melanogaster model of classic galactosemia Jennifer M. I. Daenzer, et al https://doi.org/10.1002/jimd.12774

    Shortcast: Do early-treated adults with phenylketonuria sense high phenylalanine levels?

    Play Episode Listen Later Aug 30, 2024 3:53


    Dr Roman Trepp attempts to answer the question, Do early-treated adults with phenylketonuria sense high phenylalanine levels? Do early-treated adults with phenylketonuria sense high phenylalanine levels? Laura Hauri, Raphaela Muri, Regula Everts, Roman Trepp https://doi.org/10.1002/jmd2.12446

    Fatty acid homeostasis

    Play Episode Listen Later Aug 16, 2024 18:09


    Professors Fréd Vaz and Ronald Wanders present an entertaining and informative overview of fatty acid homeostasis and explain why the catabolic and anabolic processes cannot be considered separately. Disorders of fatty acid homeostasis Frédéric M. Vaz, et al https://doi.org/10.1002/jimd.12734

    Metabolic mysteries: Progressive neurological symptoms after a change in diet

    Play Episode Listen Later Aug 9, 2024 6:30


    Dr Annet Bosch describes three cases where young adults developed worsening neurological symptoms after a change in diet. Initially confused with Guillan-Barré Syndrome, this treatable condition may be hard to diagnose but devastating to miss. Find full details here: https://doi.org/10.1002/jmd2.12427

    Heterozygous DHDDS variants

    Play Episode Listen Later Aug 2, 2024 18:00


    Dr Irena Muffels is joined by Professor Eva Morava to discuss insights into heterozygous DHDDS variants, an autosomal dominant IMD that appears to impact on multiple different metabolic pathways. Assessing age of onset and clinical symptoms over time in patients with heterozygous pathogenic DHDDS variants I. J. J. Muffels, et al https://doi.org/10.1002/jimd.12769

    Footprints of IMD: Metabolic Epilepsies... with Phillip Pearl

    Play Episode Listen Later Jul 29, 2024 30:47


    Professor Phillip Pearl joins Eva Morava to discuss the footprints of metabolic epilepsies and a very brief introduction to the intertwined nature of music and neurology. Read the referenced paper here: https://doi.org/10.1016/j.ymgme.2023.107690 Find IMDs associated with epilepsies at: http://iembase.org/gamuts/store/docs/IMDs_presenting_with_epilepsies_010124.pdf

    Gene replacement therapies for inherited disorders of neurotransmission: Progress in SSADH

    Play Episode Listen Later Jul 19, 2024 17:53


    Dr Henry Lee joins the podcast to discuss the challenges of developing gene therapies for inherited disorders of neurotransmission and shares the progress that his group has made with SSADH deficiency. Gene replacement therapies for inherited disorders of neurotransmission: Current progress in succinic semialdehyde dehydrogenase deficiency Henry H. C. Lee, et al https://doi.org/10.1002/jimd.12735

    Shortcast: Galactokinase 1 is the source of elevated gal-1-phosphate in a galactosemia mouse model

    Play Episode Listen Later Jul 12, 2024 4:18


    Dr Tom Hartl discusses his group's work with a mouse model that knocks out both GALT and GALK and the insights that this provides into classic galactosemia. Galactokinase 1 is the source of elevated galactose-1-phosphate and cerebrosides are modestly reduced in a mouse model of classic galactosemia Linley Mangini, et al https://doi.org/10.1002/jmd2.12438

    Dietary management for pyridoxine-dependent epilepsy

    Play Episode Listen Later Jul 4, 2024 29:37


    Marjorie Dixon and Annemiek van Wegberg join guest host Curtis Coughlin II to complete the treatment puzzle in pyridoxine dependent epilepsy and explain the role and practicalities of lysine restriction in PDE. Dietary management for pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency, a follow-on from the international consortium guidelines Marjorie Dixon, et al https://doi.org/10.1002/jmd2.12418

    Footprints of IMD: Metabolic Liver Disease... with David Cassiman

    Play Episode Listen Later Jul 1, 2024 20:20


    Nenad Blau hosts Professor David Cassiman as he explains when to consider a metabolic differential in pediatric and adult liver disease. Read the referenced paper here: https://doi.org/10.1016/j.ymgme.2019.04.002 Find liver disorders associated with IMDS at: http://iembase.org/gamuts/store/docs/Liver_disorders_in_inherited_metabolic_disorders.pdf

    Shortcast: Normal transferrin glycosylation does not rule out severe ALG1 deficiency

    Play Episode Listen Later Jun 28, 2024 4:46


    In the latest shortcast, Inez Bosnyak describes a case of ALG1-CDG presenting without an abnormal isoelectric focusing pattern. Normal transferrin glycosylation does not rule out severe ALG1 deficiency Inez Bosnyak, et al https://doi.org/10.1002/jmd2.12415

    Speech & neural oscillation in classic galactosemia

    Play Episode Listen Later Jun 21, 2024 23:16


    Speech & neural oscillation in classic galactosemia by Journal of Inherited Metabolic Disease

    Shortcast: Late-onset refractory hemolytic anemia in siblings treated for MTRR deficiency

    Play Episode Listen Later Jun 14, 2024 8:46


    Alexandre Nguyen and Manuel Schiff share the story of two siblings with severe haemolytic anaemia developing in previously well controlled methionine synthase reductase deficiency. Late-onset refractory hemolytic anemia in siblings treated for methionine synthase reductase deficiency: A rare complication possibly prevented by hydroxocobalamin dose escalation? Alexandre Nguyen, et al https://doi.org/10.1002/jmd2.12422

    Lessons from adult metabolic medicine

    Play Episode Listen Later Jun 7, 2024 21:26


    Dr Fanny Mochel returns to the podcast to answer the question, "What can pediatricians learn from adult inherited metabolic diseases?" What can pediatricians learn from adult inherited metabolic diseases? Fanny Mochel https://doi.org/10.1002/jimd.12729

    Metabolic mysteries: A treatable condition masquerading as TORCH Infection

    Play Episode Listen Later Jun 5, 2024 3:05


    Dr Vykunta Raju K N, Professor of Paediatric Neurology discusses a child presenting with IUGR, microcephaly, cataracts, developmental delay, seizures, and cerebral atrophy. L-Serine Biosynthesis Defect: A Treatable Condition Masquerading as TORCH Infection Vykuntaraju K. Gowda et al https://link.springer.com/article/10.1007/s12098-024-05181-3

    Footprints of IMD: the IEMbase and Cerebral Palsy... with Gabriella Horvath

    Play Episode Listen Later Jun 1, 2024 18:19


    Eva Morava discusses the creation of the IEMbase with Nenad Blau before the pair welcome Gabriella Horvath to discuss metabolic mimics of cerebral palsy in the first episode of the footprints series. Read the referenced paper here: https://doi.org/10.1016/j.ymgme.2021.03.008 Find all the metabolic mimics of CP at http://iembase.org/gamuts/store/docs/Metabolic_mimics_of_cerebral_palsy.pdf

    Claim JIMD Podcasts

    In order to claim this podcast we'll send an email to with a verification link. Simply click the link and you will be able to edit tags, request a refresh, and other features to take control of your podcast page!

    Claim Cancel