JIMD Podcasts

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

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 Vockley et al.

https://doi.org/10.1002/jimd.12313

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

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 breast milk for an infant with a long-chain fatty acid oxidation disorder (00:19:08) and Professor Simon Heales and Dr Stefan Krywawych look at the utility of ear wax for detecting IMD (00:24:37).

The genetic and biochemical basis of trimethylaminuria in an Irish cohort

Samantha Doyle et al.

https://doi.org/10.1002/jmd2.12028

Quantitative amino acid analysis by liquid chromatography‐tandem mass spectrometry using low cost derivatization and an automated liquid handler

William S. Phipps et al.

https://doi.org/10.1002/jmd2.12080

Simplified Diet for nutrition management of phenylketonuria: A survey of U.S. metabolic dietitians

Joyanna Hansen et al.

https://doi.org/10.1002/jmd2.12106

Use of skimmed breast milk for an infant with a long‐chain fatty acid oxidation disorder: A novel therapeutic intervention

Amy Kritzer et al.

https://doi.org/10.1002/jmd2.12152

Earwax: A potentially useful medium to identify inborn errors of metabolism?

Stefan Krywawych et al.

https://doi.org/10.1002/jmd2.12102

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 review and meta‐analysis of published cases reveals the natural disease history in multiple sulfatase deficiency

Lars Schlotawa et al.

https://doi.org/10.1002/jimd.12282

View from inside: When multiple sulfatase deficiency changes everything about how you live and becomes your life

Alan Finglas

https://doi.org/10.1002/jimd.12305

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

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