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 ..read more

Originally presented at the SSIEM 2023 Annual Symposium. Neuronopathic Gaucher disease: Rare in the West, common in the East Ozlem Goker-Alpan, Margarita M. Ivanova https://doi.org/10.1002/jimd.12749 ..read more

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 ..read more

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 ..read more

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 ..read more

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 ..read more

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

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 ..read more

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 ..read more

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 ..read more