JIMD Lawrence

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 Disorders
Carlos R. Ferreira et al.

https://onlinelibrary.wiley.com/doi/10.1002/jimd.12348

An International Classification of Inherited Metabolic Disorders

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 disorders: Report from a nationwide study in Japan
Jun Kido, et al
https://doi.org/10.1002/jimd.12384

Adult-onset diagnosis of urea cycle disorders: Results of a French cohort of 71 patients
Ségolène Toquet, et al
https://doi.org/10.1002/jimd.12403

Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision
Johannes Häberle, et al
https://doi.org/10.1002/jimd.12100

Why everyone needs to know about Urea Cycle Disorders

Dr Sander Houten of the Icahn School of Medicine returns to the podcast to explain his work exploring opportunities for substrate reduction therapy in disorders of valine and isoleucine metabolism.

Acyl-CoA dehydrogenase substrate promiscuity: Challenges and opportunities for development of substrate reduction therapy in disorders of valine and isoleucine metabolism
Sander M. Houten, et al
https://doi.org/10.1002/jimd.12642

Possible substrate reduction therapy in disorders of valine and isoleucine metabolism

In our latest podcast, Antonia Ribes, Frederic Tort, and Gerard Muñoz-Pujol discuss CRISPR/Cas9 based technique for the validation of genetic variants requiring just the genetic data. 

CRISPR/Cas9-based functional genomics strategy to decipher the pathogenicity of genetic variants in inherited metabolic disorders
Gerard Muñoz-Pujol, et al
https://doi.org/10.1002/jimd.12681

Deciphering pathogenicity with CRISPR/Cas9

Blood spots are integral to disease monitoring in PKU, however, there are concerns regarding correlation between capillary and plasma levels and discrepancies arising based on sampling quality and storage. Dr Rachel Carling explains how a volumetric blood collection device presents a cost effective way to improve consistency and reduce rejected samples. 

Investigation of the relationship between phenylalanine in venous plasma and capillary blood using volumetric blood collection devices
Rachel S. Carling, et al
https://doi.org/10.1002/jmd2.12398

Shortcast: Relationship between plasma & capillary blood Phe using volumetric collection devices

The Journal of Inherited Metabolic Disease Editorial Committee come together to talk about the direction of metabolic medicine, the dangers and potential of AI, impact factors, reviewing papers and their publication hopes for 2024. There's also a little metabolic quiz, allowing you to pit your wits against the committee. Featuring: Shamima Rahman, Matthias Baumgartner, Verena Peters, Marc Patterson, Johannes Zschocke and Sean Froese.

Quo vadis now: Beyond genomics to an era of personalised medicine
Shamima Rahman, et al
https://doi.org/10.1002/jimd.12487

Risk and potential of ChatGPT in scientific publishing
Verena Peters, et al
https://doi.org/10.1002/jimd.12666

JIMD Editor's Roundtable (2023)

Dr Sander Houten discusses a child with hyperlysinemia diagnosed via newborn screening and whether this reflects a disease or just a metabolic perturbation. This distinction is relevant as inducing this state may be a treatment option in GA1 or pyridoxine dependent epilepsy. 

A case of hyperlysinemia identified by urine newborn screening
Mehdi Yeganeh, et al
https://doi.org/10.1002/jmd2.12399

Shortcast: A case of hyperlysinemia identified by urine newborn screening

Returning guests, Nina Stolwijk and Dr Carla Hollak, and their colleague Dr Annet Bosch, try to untangle the tricky subject of regulation in nutritional products used as therapies in IMD. They also present a framework for when a food should be considered a medicine. 

Food or medicine? A European regulatory perspective on nutritional therapy products to treat inborn errors of metabolism
N. N. Stolwijk, et al
https://doi.org/10.1002/jimd.12677

Food or medicine? Nutritional therapies in IMD

Pediatric researchers Cynthia Bearer and Eleanor Molloy join podcast host Geoff Marsh to give an update on plans for the podcast and to offer some sage advice for Early Career Investigators.

Find more Pediapod episodes here: https://www.nature.com/collections/fcbjjbchaa

Conversation With Pediatric Researchers Cynthia Bearer and Eleanor Molloy

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 with a primary mitochondrial disease: An international Delphi‐based consensus
Maaike C. De Vries et al
https://doi.org/10.1002/jimd.12196

Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases
Omar Hikmat et al
https://doi.org/10.1002/jimd.12211

Mitochondria, medication and POLG

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 et al

https://doi.org/10.1002/jimd.12086

Simplifying Inherited Metabolic Disease

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

Taking a position on MNGIE

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 energetic defect
Claire‐Marine Bérat et al. 
https://doi.org/10.1002/jimd.12314

The phenotype associated with variants in TANGO2 may be explained by a dual role of the protein in ER‐to‐Golgi transport and at the mitochondria
Miroslav P. Milev et al. 
https://doi.org/10.1002/jimd.12312

It takes two to TANGO2

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
Curtis R. Coughlin et al.
https://doi.org/10.1002/jimd.12332

Pyridoxine-dependent epilepsy

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 identified by newborn screening: Meta‐analysis and consensus guidelines
Eric J. Mallack et al.
https://doi.org/10.1002/jimd.12356

Evolution of adrenoleukodystrophy model systems
Roberto Montoro et al.
https://doi.org/10.1002/jimd.12357

All About ALD

JIMD Podcasts is home to the Journal of Inherited Metabolic Disease podcast and the JIMD Shortcast. We're also proud to showcase Metabolic Mysteries and the new Footprints in IMD podcast.

All About ALD

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