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PODCAST

JIMD Podcasts

Journal of Inherited Metabolic Disease

JIMD Podcasts is home to the Journal of Inherited Metabolic Disease podcast and the JIMD Shortcast. We"re also proud to showcase Metabolic Mysteries and the new Footprints in IMD podcast.

science

All Episodes

00:30:33

How guidelines drive research and research influences...

JIMD Podcasts ·

2023/02/17

Dr Patrick Forny and Dr Nikolas Boy join the podcast to discuss their recent paper that considers how guideline development feeds into research targets and how new research is integrated into guidelines. How guideline development has informed clinical research for organic acidurias (et vice versa) Patrick Forny, et al https://doi.org/10.1002/jimd.12586

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00:04:01

Shortcast: Successful heart transplantation in an...

JIMD Podcasts ·

2023/02/10

Dr Ruqaiah Altassan describes the successful heart transplantation in a child with PGM1-CDG. Successful heart transplantation in an infant with phosphoglucomutase 1 deficiency (PGM1-CDG) Ruqaiah Altassan, et al https://doi.org/10.1002/jmd2.12350 You may also be interested in: AAV-based gene therapy prevents and halts the progression of dilated cardiomyopathy in a mouse model of phosphoglucomutase I deficiency (PGM1-CDG). Balakrishnan et

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00:09:23

Shortcast: First decade anniversary of the United...

JIMD Podcasts ·

2023/02/07

Dr Milad Khedr, Dr Nick Sireau and Professor Ranganath discuss a decade of success for the UK National Alkaptonuria Centre and how close integration with the AKU Society works to provide better care for all patients. First decade anniversary of the United Kingdom National Alkaptonuria Centre Milad Khedr, et al https://doi.org/10.1002/jmd2.12340

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00:21:54

Cellular Insights and Computational Modelling In MMA

JIMD Podcasts ·

2023/02/03

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

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00:12:34

Novel therapy in a propionic acidemia mouse model

JIMD Podcasts ·

2023/01/20

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

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00:03:48

Shortcast: Compound heterozygous variants in 2...

JIMD Podcasts ·

2023/01/17

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

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00:04:14

Shortcast: 3-Methylglutaconyl-CoA hydratase...

JIMD Podcasts ·

2023/01/12

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

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00:49:18

Priority Setting Partnership in Mitochondrial Disease

JIMD Podcasts ·

2023/01/06

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

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00:04:25

Shortcast: HPMRS3 (Mabry Syndrome): CSF abnormalities...

JIMD Podcasts ·

2022/12/28

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

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00:31:30

Recommendations for diagnosing and managing...

JIMD Podcasts ·

2022/12/23

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

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00:39:48

Diagnostics, EXPLORE B and POWER in Porphyria

JIMD Podcasts ·

2022/12/09

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

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00:06:33

Shortcast: Isolated neurological presentations of...

JIMD Podcasts ·

2022/11/29

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

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00:19:00

Novel CSF biomarkers in GLUT1 deficiency syndrome

JIMD Podcasts ·

2022/11/25

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

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00:10:31

Shortcast: Management of pregnancy in a patient with...

JIMD Podcasts ·

2022/11/21

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

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00:04:49

Shortcast: Infantile-onset Pompe disease with...

JIMD Podcasts ·

2022/11/14

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

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00:25:39

Sex Specific Screening in X-linked Adrenoleucodystrophy

JIMD Podcasts ·

2022/11/11

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

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00:06:22

Shortcast: Direct replacement of oral benzoate with...

JIMD Podcasts ·

2022/11/08

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

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00:44:02

Everyone's talking about empagliflozin

JIMD Podcasts ·

2022/10/28

Maria Veiga-da-Cunha, Claudia Soler-Alfonso and Sarah Grünert join the podcast to talk about Empagliflozin, a repurposed drug with impressive efficacy in GSD 1b and G6PC3 deficiency. Successful use of empagliflozin to treat neutropenia in two G6PC3-deficient children: Impact of a mutation in SGLT5 Cécile Boulanger, et al https://doi.org/10.1002/jimd.12509 Untargeted metabolomic profiling in a patient with glycogen storage disease Ib receiving empagliflozin treatment Eran Tallis, et

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00:09:19

Shortcast: GA 1: Diagnosis, clinical features &...

JIMD Podcasts ·

2022/10/21

Lydia Healy, Meabh O'Shea and Professor Ahmad Ardeshir Monavari report the Irish experience with GA1, both before and after the introduction of new born screening for the condition. Glutaric aciduria type 1: Diagnosis, clinical features and long-term outcome in a large cohort of 34 Irish patients Lydia Healy, et al https://doi.org/10.1002/jmd2.12302

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00:04:30

Shortcast: Use of Elamipretide in patients assigned...

JIMD Podcasts ·

2022/10/18

Dr Mary Kay Koenig describes the use of elamipretide in three children with different mitochondrial disorders. Her group's work provides dosing parameters for the use of elamipretide in patients <12 years of age with mitochondrial diseases caused by pathogenic variants that impair membrane phospholipid remodelling. Use of Elamipretide in patients assigned treatment in the compassionate use program: Case series in pediatric patients with rare orphan diseases Mary Kay Koenig, et

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