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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

00:29:37

Dietary management for pyridoxine-dependent epilepsy

JIMD Podcasts ·

2024/07/04

Marjorie Dixon and Annemiek van Wegberg join guest host Curtis Coughlin II to complete the treatment puzzle in pyridoxine dependent epilepsy and explain the role and practicalities of lysine restriction in PDE.Dietary management for pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency, a follow-on from the international consortium guidelines Marjorie Dixon, et al https://doi.org/10.1002/jmd2.12418

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00:20:20

Footprints of IMD: Metabolic Liver Disease... with...

JIMD Podcasts ·

2024/07/01

Nenad Blau hosts Professor David Cassiman as he explains when to consider a metabolic differential in pediatric and adult liver disease. Read the referenced paper here: https://doi.org/10.1016/j.ymgme.2019.04.002 Find liver disorders associated with IMDS at: http://iembase.org/gamuts/store/docs/Liver_disorders_in_inherited_metabolic_disorders.pdf

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00:04:46

Shortcast: Normal transferrin glycosylation does not...

JIMD Podcasts ·

2024/06/28

In the latest shortcast, Inez Bosnyak describes a case of ALG1-CDG presenting without an abnormal isoelectric focusing pattern. Normal transferrin glycosylation does not rule out severe ALG1 deficiency Inez Bosnyak, et al https://doi.org/10.1002/jmd2.12415

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00:23:16

Speech & neural oscillation in classic galactosemia

JIMD Podcasts ·

2024/06/21

Dr Estela Rubio-Gozalbo and Dr Bernadette Jansma explain why brains oscillate, what that has to do with classical galactosemia and how a non-invasive intervention could help with language difficulties. Altered neural oscillations in classical galactosaemia during sentence production Sara Mazzini, et al https://doi.org/10.1002/jimd.12740 Impact of theta transcranial alternating current stimulation on language production in adult classic galactosemia patients Britt Derks, et

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00:08:46

Shortcast: Late-onset refractory hemolytic anemia in...

JIMD Podcasts ·

2024/06/14

Alexandre Nguyen and Manuel Schiff share the story of two siblings with severe haemolytic anaemia developing in previously well controlled methionine synthase reductase deficiency.Late-onset refractory hemolytic anemia in siblings treated for methionine synthase reductase deficiency: A rare complication possibly prevented by hydroxocobalamin dose escalation? Alexandre Nguyen, et al https://doi.org/10.1002/jmd2.12422

en

00:21:26

Lessons from adult metabolic medicine

JIMD Podcasts ·

2024/06/07

Dr Fanny Mochel returns to the podcast to answer the question, "What can pediatricians learn from adult inherited metabolic diseases?"What can pediatricians learn from adult inherited metabolic diseases? Fanny Mochel https://doi.org/10.1002/jimd.12729

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00:03:05

Metabolic mysteries: A Treatable Condition...

JIMD Podcasts ·

2024/06/05

Dr Vykunta Raju K N, Professor of Paediatric Neurology discusses a child presenting with IUGR, microcephaly, cataracts, developmental delay, seizures, and cerebral atrophy.L-Serine Biosynthesis Defect: A Treatable Condition Masquerading as TORCH Infection Vykuntaraju K. Gowda et al https://link.springer.com/article/10.1007/s12098-024-05181-3

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00:18:19

Footprints of IMD: the IEMbase and Cerebral Palsy......

JIMD Podcasts ·

2024/06/01

Eva Morava discusses the creation of the IEMbase with Nenad Blau before the pair welcome Gabriella Horvath to discuss metabolic mimics of cerebral palsy in the first episode of the footprints series. Read the referenced paper here: https://doi.org/10.1016/j.ymgme.2021.03.008 Find all the metabolic mimics of CP at http://iembase.org/gamuts/store/docs/Metabolic_mimics_of_cerebral_palsy.pdf

en

00:30:55

Pregnancy in phenylketonuria

JIMD Podcasts ·

2024/05/24

Dr Maja Risager Nielsen and Dr François Feillet discuss pregnancy in PKU and two different papers looking at the outcomes in pregnancies with and without BH4 treatment. The impact of phenylalanine levels during pregnancy on birth weight and later development in children born to women with phenylketonuria Maja Risager Nielsen, et al https://doi.org/10.1002/jimd.12600 Efficacy and safety of sapropterin before and during pregnancy: Final analysis of the Kuvan® Adult Maternal Paediatric European

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00:10:19

Acute liver failure? Think metabolic

JIMD Podcasts ·

2024/05/10

When might acute liver failure have a metabolic cause? Dr Robert Hegarty tries to answer this question and more following his recent review article on Genetic aetiologies of acute liver failure. Genetic aetiologies of acute liver failure Robert Hegarty, Richard J. Thompson https://doi.org/10.1002/jimd.12733

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00:32:44

Aicardi-Goutières syndrome

JIMD Podcasts ·

2024/04/26

Dr Mariko Bennett and Dr Laura Adang discuss the precarious balance between a protective and a destructive immune response, as is seen in inborn errors in nucleotide metabolism. Our discussion focuses on the most common of these disorders: Aicardi Goutières syndrome (AGS). Sadly, despite the many gains in understanding about AGS, there remain many gaps in our understanding of this condition.Nucleotide metabolism, leukodystrophies, and CNS pathology Francesco Gavazzi, et

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00:04:30

Shortcast: Pediatric palliative care for IMD: 20-year...

JIMD Podcasts ·

2024/04/19

Dr Gustavo Spolador discusses the paucity of data around palliative care in Inherited Metabolic Disease and some of his own observations in a Brazilian quaternary hospital.Pediatric palliative care for metabolic diseases: 20-year epidemiological survey of outpatients at a Brazilian quaternary hospital Gustavo Marquezani Spolador, et al https://doi.org/10.1002/jmd2.12417

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00:17:08

Pregnancy in Urea Cycle Disorders

JIMD Podcasts ·

2024/04/12

This episode brings together two popular podcast topics, pregnancy and urea cycle disorders. Dr Margreet Wagenmakers and Dr Karolina Stepien share recent insights from a literature review and international survey exploring the experiences of mothers with urea cycle disorders. The management and clinical outcomes of pregnancies in women with urea cycle disorders: A review of the literature and results of an international survey Karolina M. Stepien, et al https://doi.org/10.1002/jimd.12695

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00:09:15

Shortcast: Clinical experience with glycerol...

JIMD Podcasts ·

2024/04/05

Mel McSweeney and Dr Mildrid Yeo briefly outline the approach to urea cycle disorder management and the Gt Ormond Street experience using glycerol phenylbutyrate as a nitrogen scavenger. Clinical experience with glycerol phenylbutyrate in 20 patients with urea cycle disorders at a UK paediatric centre Mildrid Yeo, et al https://doi.org/10.1002/jmd2.12386

en

00:33:50

Liver directed gene therapy

JIMD Podcasts ·

2024/03/28

The podcast returns to the subject of gene therapy, with Julien Baruteau, Nicola Brunetti-Pierri, and Paul Gissen discussing the potential of liver directed therapies with an emphasis on Wilson disease, Crigler-Najjar syndrome and PKU.Liver-directed gene therapy for inherited metabolic diseases Julien Baruteau, Nicola Brunetti-Pierri, Paul Gissen https://doi.org/10.1002/jimd.12709

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00:06:41

Shortcast: Psychosocial issues and coping strategies...

JIMD Podcasts ·

2024/03/22

Dr Maren Thiel, Chair of the German speaking self-help group for fatty oxidation disorders, presents work completed with the Freiburg metabolic team looking at psychosocial issues and coping strategies in families affected by LC-FAOD.Psychosocial issues and coping strategies in families affected by long-chain fatty acid oxidation disorders Maren Thiel, et al https://doi.org/10.1002/jmd2.12402

en

00:16:25

BH4 in tyrosine hydroxylase deficiency

JIMD Podcasts ·

2024/03/15

Listener feedback link: https://form.jotform.com/240459204544050Kunwar Jung-KC and Alba Tristán-Noguero discuss tyrosine hydroxylase deficiency and explain how the tyrosine hyodroxylase cofactor, BH4, has shown early therapeutic potential in human neurons and a knock-in mouse model. Tetrahydrobiopterin (BH4) treatment stabilizes tyrosine hydroxylase: Rescue of tyrosine hydroxylase deficiency phenotypes in human neurons and in a knock-in mouse model Kunwar Jung-KC, Alba Tristán-Noguero, et

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00:04:02

Shortcast: Lysinuric protein intolerance exhibiting...

JIMD Podcasts ·

2024/03/08

Dr Hiroki Hanafusa presents the unusual case of a woman who was initially diagnosed with Fanconi Syndrome and later found to have Lysinuric Protein Intolerance.Lysinuric protein intolerance exhibiting renal tubular acidosis/Fanconi syndrome in a Japanese woman Hiroaki Hanafusa, et al https://doi.org/10.1002/jmd2.12392

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00:23:07

How to proceed after a "negative" exome

JIMD Podcasts ·

2024/02/29

A superlative trio, Dr Machteld Oud, Dr Clara van Karnebeek and Dr Saskia Wortmann join the podcast to explain the importance of diagnostics, why all exomes aren't equal and just how should you proceed after a 'negative' exome.How to proceed after “negative” exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques Saskia B. Wortmann, et al https://doi.org/10.1002/jimd.12507

en

00:03:13

Shortcast: Neuropsychological stability in classical...

JIMD Podcasts ·

2024/02/23

Merel Hermans describes her work reviewing neuropsychological stability in adults with classical galactosemia.Neuropsychological stability in classical galactosemia: A pilot study in 10 adult patients Merel E. Hermans, et al https://doi.org/10.1002/jmd2.12410

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