JIMD Podcasts

Dr Monique Williams joins us on the podcast to discuss the European experience of transplantation in Inherited Metabolic Disease. There’s currently no central record of procedures or outcomes and Dr Williams and her team are keen to standardise management around transplant and ensure that there is a robust evidence base. Liver and/or kidney transplantation in amino and organic acid‐related inborn...

Authors Dr Kim Hemsley and Nazzmer Nazri, from the Childhood Dementia Research Group, are joined by their colleague Dr Nick Smith to discuss their recent paper, as well as the wider implications of heterozygosity for Lysosomal Storage Disorders (LSDs) and whether these are associated with early-onset neurodegenerative disease. 50000 children a year are born with conditions associated with childhoo...

It was a pleasure to be joined by the inimitable Professor Lakshminarayan Ranganath to discuss all things AKU. Ranga spoke about the outcomes of two recent papers looking at his centre’s experience using Nitisinone in these patients but also explains disease physiology, the history of drug discovery, new insights into the disease and upcoming research; 120 years of metabolic medicine in 25 minutes...

Dr Giuseppe Ronzitti and Dr Alan O’Brien discuss their recent paper of Glycogen Storage Disorder Type III. They discuss the clinical features of the condition, new insights around the age of onset of muscular symptoms and treatments in use today, as well as those being research for use in the years to come. Narrative review of glycogen storage disorder type III with a focus on neuromuscular, cardi...

Dr Uwe Kornak and Dr Björn Fischer-Zirnsak explain all things cutis lava to our social media editor, and explain how their recent work helps further define the clinical description of ATP6V1A disease. Expanding the clinical and molecular spectrum of ATP6V1Arelated metabolic cutis laxa Guido Vogt MSc et al. https://doi.org/10.1002/jimd.12341

In the 16th podcast from the Journal of Inherited Metabolic Disease, Dr Stephan Kemp and Dr Eric Mallack join our social media editor to discuss their recent papers on X-linked adrenoleucodystrophy. Dr Kemp explains how a variety of model systems are used to aid disease understanding and help in the development of new therapies, whilst Dr Mallack shares new guidance around surveillance for the ons...

Peter Clayton, Emma Footitt and Curtis Coughlin join us to discuss the new consensus guidelines for PDE-ALDH7A1 disease. Professor Clayton explains the pathophysiology and history of the condition. Dr Footitt and Dr Clayton discuss the metabolic investigations of early onset seizures as well as the proposed management of pyridoxine-dependent epilepsy. Consensus guidelines for the diagnosis and man...

Professor Jerry Vockley joins our social media editor, James Nurse, to discuss a recent paper looking at the use of Triheptanoin (C7) in patients with long chain fatty acid oxidation disorders. Listeners may also be interested in the emotive editorial: View from inside: Rare diseases in the times of COVID19 (https://doi.org/10.1002/jimd.12334) Effects of triheptanoin (UX007) in patients with long‐...

The journal recently published two articles on TANGO2 deficiency, describing a case series of 20 patients and exploring the uncertain pathophysiology of this condition. Dr Sebastian Montealgre, Dr Pascale de Lonlay, Dr Felix Distelmaier and Dr Michael Sacher joined our social media editor to explain what they observed and the implications of those findings. Clinical and biological characterization...

Dr Cecilia Marelli and Dr Fanny Mochel discuss their recent work, looking at the largest case series of adults with late-onset MTHFR deficiency described so far. They discuss the clinical phenotype and diagnostic approach to this treatable, neurodegenerative disorder. Clinical and molecular characterization of adult patients Cecilia Marelli et al. https://doi.org/10.1002/jimd.12323

This episode hi-lights JIMD Reports, the open access companion journal to the Journal of Inherited Metabolic Disease. We’ve chosen to hi-light 5 very different papers and are joined by 7 of the authors to discuss their work. Professor Eileen Treacy discusses Trimethylaminuria, Dr Khushbu Patel and Dr Bill Phipps explain alternative amino acid analysis techniques (at 00:07:30), Dr Joyanna Hansen lo...

Dr Lars Schlotawa, Dr Rebecca Ahrens‐Nicklas and Dr Laura Adang, as well as MSD parent and disease advocate Alan Finglas, discuss two recent studies on Multiple Sulfatase Deficiency. Alan shares his insights on disease advocacy and what work like this means to him and his family. Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characte...

Dr Michio Hirano and Dr Rita Rinaldi discuss their recent work that summarises a 2 day consensus conference to provide guidance on the diagnosis, prognosis and treatment of Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Position paper on diagnosis, prognosis, and treatment by the MNGIE International Network Michio Hiran...

Professor Eva Morava and Dr James Nurse host three of the authors of a recent study looking at the utility whole exome sequencing in newborn screening. Dr Jennifer Puck, Dr Renata Gallagher and Dr Aashish Adhikari explain why we screen, how we screen like we do and what they found when they looked at the utility of WES screening verses traditional MS/MS for 8 years of dried bloodspots in Californi...

Dr Jong Rho of Rady Children’s Hospital discusses metabolic epilepsies amenable to the ketogenic diet. Dr Rho explains the effects of the diet on the body and why it is effective in certain forms of inherited metabolic disease. Metabolic epilepsies amenable to ketogenic therapies: Indications, contraindications, and underlying mechanisms Cezar Gavrilovici, Jong M. Rho https://doi.org/10.1002/jimd....

Professor Shamima Rahman speaks with Social Media editor James Nurse about the challenges of conducting clinical trials in mitochondrial disease and developments in treatment. Professor Rahman explains that improvements in diagnostics have allowed a renewed focus on treatments. Moving Towards Clinical Trials for Mitochondrial Diseases Robert D.S. Pitceathly, Nandaki Keshavan, Joyeeta Rahman, Shami...

Professor Eva Morava of the Mayo Clinic takes us through the recently published consensus statement on the diagnosis and management of PGM1-CDG. Professor Morava provides a concise background to Congenital Disorders of Glycosylation and PGM1 disease specifically, and she explains how to recognise and diagnose this rare but treatable condition. International consensus guidelines for phosphoglucomut...

Professor Saudubray and Professor Garcià-Cazorla discuss their paper from 2019 which proposed a simplified classification of IMD. They discuss the challenges of placing over 1000 diagnoses in one of three categories and the value this provides to clinicians. Proposal for a simplified classification of IMD based on a pathophysiological approach: A practical guide for clinicians Jean‐Marie Saudubray...

Professor Peter Clayton of the Institute for Child Health speaks to the JIMD Podcast about recent findings suggesting that an inborn error in a proline transporter could increase susceptibility to severe CoVID19 disease. Is susceptibility to severe COVID ‐19 disease an inborn error of metabolism? Peter Clayton https://doi.org/10.1002/jimd.12280

Professor Bindoff and Professor Gorman, two luminaries of the world of mitochondrial medicine, speak with James Nurse about recent work in JIMD expanding knowledge on safe drug use in Primary Mitochondrial Disease. Professor Bindoff also explains a proposed classification for Polymerase Gamma disease including when to suspect this condition and how to investigate it. Safety of drug use in patients...

Dr Emma Vardy, a Consultant Geriatrician from Salford, UK, explains the findings of a recent JIMD review looking at the impact of phenylketonuria in adulthood. With those who have benefitted from early treatment now approaching their fifth and sixth decades, PKU cannot just be seen as a disease of childhood and more work is needed to look into the long term impact of the condition. Phenylketonuria...