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

Kristen Wheeden of the United Porphyrias Association joins as podcast co-host to ask David Cassiman, Pieter Vermeersch and Amy Dickey about improving diagnostics in porphyria and the outcomes of the EXPLORE B and POWER surveys exploring quality of life. 

Development and validation of diagnostic algorithms for the laboratory diagnosis of porphyrias
Stefanie Lefever, et al
https://doi.org/10.1002/jimd.12545

EXPLORE B: A prospective, long-term natural history study of patients with acute hepatic porphyria with chronic symptoms
David Cassiman, et al
https://doi.org/10.1002/jimd.12551

Quantifying the impact of symptomatic acute hepatic porphyria on well-being via patient-reported outcomes: Results from the Porphyria Worldwide Patient Experience Research (POWER) study
Amy Dickey, et al
https://doi.org/10.1002/jmd2.12343

Diagnostics, EXPLORE B and POWER in Porphyria

Professor Judy Fridovich-Keil returns to the podcast to explain gaps in research data around the S135L variant in classic galactosemia and why current data sets may not not truly reflect the international experience of galactosemia. 

A multinational study of acute and long-term outcomes of Type 1 galactosemia patients who carry the S135L (c.404C > T) variant of GALT
Quinton S. Katler, et al
https://doi.org/10.1002/jimd.12556

Racial and ethnic diversity of classic and clinical variant galactosemia in the United States
Stettner et al
https://doi.org/10.1016/j.ymgme.2023.107542

Racial diversity and the S135L variant in galactosemia

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

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

A fortnightly podcast from the Journal of Inherited Metabolic Disease, where authors discuss recent publications from the journal. The podcast is intended for specialists and interested clinicians but is also intended to increase the accessibility of this work for patients and families. Supported by Wiley.

Diagnostics, EXPLORE B and POWER in Porphyria

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