Associate Professor Sabine Fuchs and PhD Candidate Vivian Lehmann join the podcast to explain cholangiocyte organoids and the role they play in understanding rare disease and testing new treatments. The potential and limitations of intrahepatic cholangiocyte organoids to study inborn errors of metabolism Vivian Lehmann, et al https://doi.org/10.1002/jimd.12450
Dr Sandra Kingma from the Centre for Rare Diseases in Antwerp joins the podcast to discuss all things Mucopolysaccharidosis type I. Her recent paper asks 'where are we now?' and I asked her about where we are going next? MPS I: Early diagnosis, bone disease and treatment, where are we now? Sandra D. K. Kingma, An I. Jonckheere, First published: 03 September 2021 https://doi.org/10.1002/jimd.12431
The podcast is joined by the wonderful Dr Sander Houten and Dr Pablo Ranea-Robles who explain their recent working looking at the ATP binding cassette ABCD3 in dicarboxylic fatty acid metabolism. The peroxisomal transporter ABCD3 plays a major role in hepatic dicarboxylic fatty acid metabolism and lipid homeostasis Pablo Ranea-Robles et al https://doi.org/10.1002/jimd.12440
Dr Marc Patterson and Dr Eugen Mengel explain the challenges of treating Niemann Pick Type C. Recent studies have shown the efficacy of Miglustat and Arimoclomol but they may end up forming just part of the puzzle being built to manage this condition. Efficacy and safety of arimoclomol in Niemann-Pick disease type C: Results from a double-blind, randomised, placebo-controlled, multinational phase 2/3 trial of a novel treatment Eugen Mengel, et al https://doi.org/10.1002/jimd.12428 Long-term surv...
Dr Chiara Pizzamiglio of the Department of Neuromuscular Diseases at Queen Square discusses her recent publication looking at a huge cohort of 197 patients with McArdle disease. Dr Pizzamiglio hi-lights the diagnostic challenges in this GSD and shows new insights into the spectrum of extra-muscular manifestations seen in the condition. Phenotype and genotype of 197 British patients with McArdle disease: An observational single-centre study Chiara Pizzamiglio et al https://doi.org/10.1002/jimd.12...
Professor Warren Kruger of the Fox Chase Cancer Centre in Philadelphia joins the podcast to talk about homocystinuria, successful trials in gene therapy, why it costs so much to make viruses and what inspires him. Long-term functional correction of cystathionine β-synthase deficiency in mice by adeno-associated viral gene therapy Hyung-Ok Lee et al https://doi.org/10.1002/jimd.12437 Interested listeners may also wish to look at: Guidelines for the diagnosis and management of cystathionine beta-s...
Dr Elaine Murphy and Dr Robin Lachmann of the Charles Dent Metabolic Unit, look after over 400 adults with PKU. They join the podcast to discuss their recent work on long-term outcomes in early-treated Phenylketonuria and to hi-light some of their more interesting findings. Long-term cognitive and psychosocial outcomes in adults with phenylketonuria Lynne Aitkenhead et al https://doi.org/10.1002/jimd.12413
In the latest podcast we've returning guest Professor Thorsten Marquardt and his colleague Dr Jörn Oliver Sass talking about their work with 3-Hydroxyisobutyrate dehydrogenase deficiency. Thorsten reports their success in using a low valine diet for an affected patient and Oliver discusses the challenge of differentiating disorder metabolism from disease. 3-Hydroxyisobutyrate dehydrogenase (HIBADH) deficiency—A novel disorder of valine metabolism Melanie Meyer et al https://doi.org/10.1002/jimd....
Melissa Broeks speaks with the podcast about her recent paper reviewing disorders of the malate aspartate shuttle, an essential pathway supporting respiratory chain activity. Melissa provides a wonderful overview of the background and clinical significance of the MAS, all of which can be explored further in her #openaccess paper. Inborn disorders of the malate aspartate shuttle Melissa H. Broeks, et al https://doi.org/10.1002/jimd.12402
The 'Junge Stoffwechselmedizin' or Young Metabolic Society is an initiative in Germany intended to support early career doctors, dieticians, scientists and nurses interested in the IMD field. Young metabolists, Dr Heiko Brennenstuhl and Dr Vanessa Kock, explain just what it's all about. They warmly welcome anyone who shares their vision of shaping the future of metabolic medicine in Europe (and beyond) to get in touch via info@junge-stoffwechselmedizin.de. The “Young Metabolic Society”: An inter...
Professors Jun Kido, Johannes Häberle and Fanny Mochel discuss their recent work on Urea Cycle Disorders to hi-light the significance of this group of diseases. Jun and Johannes collaborated on a large natural history study in Japan of over 270 patients and Fanny recently reported on a large cohort of adults presenting with disease from 16-86 years of age. All three relate these findings to the first revision of the Guidelines for Management published in 2019. Long-term outcome of urea cycle dis...
Professor Robin Lachmann of the Charles Dent Metabolic Unit discusses the science behind Enzyme Replacement Therapy and Gene Therapy and explains why these do, and sometimes do not, work in Lysosomal Storage Disorders. Professor Lachmann also discusses the progress towards establishing adult metabolic services in the UK and elsewhere. Treating lysosomal storage disorders: What have we learnt? Robin H. Lachmann https://doi.org/10.1002/jimd.12131 Education and training in adult metabolic medicine:...
Johannes Zschocke, Shamima Rahman, and Carlos Ferreira join hosts James Nurse and Eva Moreva to discuss their recent paper on the ICIMD, a new classification system that eloquently organises all things metabolic. They explain what's included, why it is necessary and just how simple it all is. Interested listeners should also read: Quo vadis: the re-definition of “inborn metabolic diseases” (https://doi.org/10.1007/s10545-015-9893-x) An International Classification of Inherited Metabolic Disorder...
Dr Terry Derks is joined by co-author, collaborator and IMD parent, Sebastiaan te Boekhorst to discuss the emergencyprotocol.net website, an initiative to empower families and standardise care for children with FAOD and GSDs. Alongside Terry and Sebastiaan are Enrique Landelino “Lande” Contreras and Marta D’Agosto, parents of Nina, a little glycogen storage disease warrior, sharing their thoughts on what this work means to them. A generic emergency protocol for patients with inborn errors of met...
The Congenital Disorders of Glycosylation are a rapidly growing group of IMDs but can present a number of diagnostic challenges. In this podcast, Dr Julien Park, Dr Robert Mealer, and Professor Thorsten Marquardt discuss an additional technique for assessing glycosylation and its role in the diagnosis and management of SLCC39A-CDG. N‐glycome analysis detects dysglycosylation missed by conventional methods in SLC39A8 deficiency Julien H. Park et al. https://doi.org/10.1002/jimd.12306
Professor Judith Fridovich-Keil has been researching galactosemia for over 20 years and it was a privilege to welcome her to the JIMD podcast. The Professor and one of her former lab students and now medical student, Jessica MacWilliams, discuss the promise of new treatments, what drives their interest in galactosemia and a new method for formally assessing fine motor control in these patients. A pilot study of neonatal GALT gene replacement using AAV9 dramatically lowers galactose metabolites i...
Dr Patrick Forny and Dr Matthias Baumgartner join our social media editor to discuss their work on the first revision to the guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia. This follow-up to a very popular resource takes a new approach to reviewing evidence and discusses the latest advances in the field. Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision Patrick Forny et al. https://doi.or...
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 errors of metabolism: An overview on European data Femke Molema et al. https://doi.org/10.1002/jimd....
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 childhood dementia and as many as 1 in 40 people carry mutations associated with LSDs so the implications of...
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. Characterizing the alkaptonuria joint and spine phenotype and assessing the effect of homogentisic...
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, cardiac and therapeutic aspects Édouard Berling et al. https://doi.org/10.1002/jimd.12355
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 onset of cerebral ALD in childhood. MRI surveillance of boys with X‐linked adrenoleukodystrophy identif...
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 management of pyridoxine‐dependent epilepsy due to α‐aminoadipic semialdehyde dehydrogenase deficiency ...
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‐chain fatty acid oxidation disorders: Results from an open‐label, long‐term extension study Jerry Vo...
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 of 20 patients with TANGO2 deficiency indicates novel triggers of metabolic crises and no primary e...
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 looks at what the Simplified Diet means in the US (00:13:13), Dr Amy Kritzer explains why they skimmed...
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 characterize an ultra‐rare disease Laura A. Adang et al. https://doi.org/10.1002/jimd.12298 A systematic rev...
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 Hirano et al. https://doi.org/10.1002/jimd.12300
