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 California.

Newborn screening: To WES or not to WES, that is the question

Eva Morava, Matthias Baumgartner, Marc Patterson, Verena Peters, Shamima Rahman

https://doi.org/10.1002/jimd.12303

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.12283

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, Shamima Rahman

https://doi.org/10.1002/jimd.12281

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 phosphoglucomutase 1 deficiency (PGM1‐CDG): diagnosis, follow‐up and management

Altassan et al

https://doi.org/10.1002/jimd.12286

Interested listeners may also want to read the consensus statement for PMM2-CDG published at the start of this year (https://doi.org/10.1002/jimd.12024).

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

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 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

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, co‐morbidity, and ageing: A review

Emma R.L.C. Vardy, Anita MacDonald, Suzanne Ford, Denise L. Hofman

https://doi.org/10.1002/jimd.12186