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

Novel CSF biomarkers in GLUT1 deficiency syndrome

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

Shortcast: Management of pregnancy in a patient with LCHADD

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

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

Priority Setting Partnership in Mitochondrial Disease

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

Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: 3rd revision

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

Shortcast: HPMRS3 (Mabry Syndrome): CSF abnormalities and correction with pyridoxine & Folinic acid

Dr Suzanne Jackowski shares the fruits of a career looking at Co-enzyme A and the results of recent work looking at a promising molecule in a propionic acidemia mouse model. 

Relief of CoA sequestration and restoration of mitochondrial function in a mouse model of propionic acidemia
Chitra Subramanian, et al
https://doi.org/10.1002/jimd.12570

Novel therapy in a propionic acidemia mouse model

Ashley Hertzog returns to the shortcast to discuss how ascertainment bias may hinder the assessment of clinical phenotype in patients with 3-Methylglutaconyl-CoA hydratase deficiency.

3-Methylglutaconyl-CoA hydratase deficiency: When ascertainment bias confounds a biochemical diagnosis
Ashley Hertzog, et al
https://doi.org/10.1002/jmd2.12332

Shortcast: 3-Methylglutaconyl-CoA hydratase deficiency: Ascertainment bias vs biochemical diagnosis

Dr Sean Froese and Dr Charlotte Ramon join the podcast to discuss the different hypotheses around cellular damage in MMA, and new insights obtained through cellular and computational models. 

Cellular and computational models reveal environmental and metabolic interactions in MMUT-type methylmalonic aciduria
Charlotte Ramon, et al
https://doi.org/10.1002/jimd.12575

Cellular Insights and Computational Modelling In MMA

Dr Richard Steet discusses his group's recent work describing compound heterozygous variants within two conserved sialyltransferase motifs of ST3GAL5 leading to GM3 synthase deficiency.

Compound heterozygous variants within two conserved sialyltransferase motifs of ST3GAL5 cause GM3 synthase deficiency
Natasha Rudy, et al
https://doi.org/10.1002/jmd2.12353

Shortcast: Compound heterozygous variants in 2 sialyltransferase ST3GAL5 motifs cause GM3SD

This podcast, and the first paper, are dedicated to the memory of Dr. Nassim Shahrzad, an accomplished scientist with a bright future who was taken from her family, friends and colleagues much too soon. May the memory of her warm smile, collegial nature and devotion to her family serve as a source of comfort and inspiration to all those who knew her.

In this podcast we return to TANGO2-deficiency disorder to hear from Dr Michael Sacher, Dr Christina Miyake and Dr Samuel Mackenzie, on how research in a drosophila disease model correlates with insights from natural history studies on the role for B-complex vitamins in TDD.

Vitamin B5, a coenzyme A precursor, rescues TANGO2 deficiency disease-associated defects in Drosophila and human cells
Paria Asadi, et al
https://doi.org/10.1002/jimd.12579

B-complex vitamins for patients with TANGO2-deficiency disorder
Sarah E. Sandkuhler, et al
https://doi.org/10.1002/jimd.12585

B vitamins, drosophila and TANGO2-deficiency disorder

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.

B vitamins, drosophila and TANGO2-deficiency disorder

JIMD Podcasts

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