JIMD Podcasts

In a bumper episode, Professor Shamima Rahman helps to host Dr Rhys Thomas, Lyndsey Butterworth, Dr Amy Hunter and Russell Wheeler in a discussion around the recent Priority Setting Partnership in Primary Mitochondrial Disease.

Research priorities for mitochondrial disorders: Current landscape and patient and professional views

Rhys H. Thomas, et al

https://doi.org/10.1002/jimd.12521

Dr Spyros Batzios describes a patient diagnosed with hyperphosphatasia with mental retardation syndrome 3 (also known as Mabry Syndrome) and reports on novel findings of CSF abnormalities and response to treatment with pyridoxine and folinic acid.

Hyperphosphatasia with mental retardation syndrome 3: Cerebrospinal fluid abnormalities and correction with pyridoxine and Folinic acid

Martina Messina, et al

https://doi.org/10.1002/jmd2.12347

Dr Nikolas Boy joins the podcast to discuss the recently published third revision of the guidelines for the diagnosis and management of Glutaric Aciduria Type 1. Dr Boy explains what has changed, what has stayed the same, and why these changes have happened.

Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision

Nikolas Boy, et al

https://doi.org/10.1002/jimd.12566

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

Dr Eva Hoytema van Konijnenburg describes the case of a patient with mevalonate kinase deficiency presenting solely with neurological symptoms and without an inflammatory component.

Isolated neurological presentations of mevalonate kinase deficiency

Eva Hoytema van Konijnenburg, et al https://doi.org/10.1002/jmd2.12348

Tessa Peters and Dr Leticia Pías-Peleteiro join the podcast to discuss GLUT1 deficiency syndrome and recent insights around the potential for new biomarkers.

Novel cerebrospinal fluid biomarkers of glucose transporter type 1 deficiency syndrome: Implications beyond the brain's energy deficit

Tessa M. A. Peters, et al

https://doi.org/10.1002/jimd.12554

Jenny McNulty describes the management of a successful pregnancy in a woman with long-chain 3-hydroxyacyl CoA dehydrogenase deficiency (LCHADD).

Management of pregnancy in a patient with long-chain 3-hydroxyacyl CoA dehydrogenase deficiency

Loai A. Shakerdi, et al

https://doi.org/10.1002/jmd2.12284

Dr Mary Riedy discuss an infant with infantile-onset Pompe disease and the challenges of an unusual neutropenia phenotype.

Infantile-onset Pompe disease with neutropenia: Treatment decisions in the face of a unique phenotype

Mary Riedy, et al

https://doi.org/10.1002/jmd2.12337

Dr Stephan Kemp returns to the podcast to discuss the recent pilot for sex-specific newborn screen for X-linked adrenoleucodystrophy in the Netherlands. The discussion includes the screening pathway, the decision to make it sex specific and a review of the pilot findings.

Sex-specific newborn screening for X-linked adrenoleukodystrophy

Monique Albersen, et al

https://doi.org/10.1002/jimd.12571

Dr Mildrid Yeo discusses a single centre's experience of transitioning UCD children from Sodium benzoate to glycerol phenylbutyrate.

Direct replacement of oral sodium benzoate with glycerol phenylbutyrate in children with urea cycle disorders

Mildrid Yeo, et al

https://doi.org/10.1002/jmd2.12274