Dr Carole Linster and Dr Nicole van Bergen explain why metabolism isn't perfect and how disorders of enzyme repair present their own challenges. In an episode that explores Niacin and longevity, we also hear why NAXD deficiency is an important differential in acute cardiomyopathy and provides an aetiology that could be highly amenable to treatment.
Clinical and biochemical distinctions for a metabolite repair disorder caused by NAXD or NAXE deficiency
Nicole J. Van Bergen, et al
https://doi.org/10.1002/jimd.12541
NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses
Nicole J Van Bergen, et al
https://doi.org/10.1093/brain/awy310
Severe NAD(P)HX Dehydratase (NAXD) Neurometabolic Syndrome May Present in Adulthood after Mild Head Trauma
Nicole J Van Bergen, et al
https://doi.org/10.3390/ijms24043582
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32:57
Imaging readiness in the gene therapy era
Asthik Biswas, Spyros Batzios, and Kshitij Mankad expand on their recent letter to the editor to explain why ushering in the new era of gene therapy treatments requires not just clinical but also imaging readiness.
Imaging readiness in the gene therapy era-exploring standardized protocols for response assessment
Asthik Biswas, et al
https://doi.org/10.1002/jimd.12828
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22:54
IMD Research Round-Up: Congenital Disorders of Glycosylation
Dr Matthew Wilson, Postdoctoral Fellow at the Centre for Human Genetics, KU Leuven, joins hosts Silvia Radenkovic and Rodrigo Starosta to discuss a scintillating selection of CDG papers in our first ever research round-up.
The papers discussed include:
A pseudoautosomal glycosylation disorder prompts the revision of dolichol biosynthesis.
Wilson et al
Clinical and biochemical footprints of congenital disorders of glycosylation: Proposed nosology.
Ng et al
Rft1 catalyzes lipid-linked oligosaccharide translocation across the ER membrane.
Chen et al
Molecular characterization of Rft1, an ER membrane protein associated with congenital disorder of glycosylation RFT1-CDG.
Hirata et al
Genome and RNA sequencing were essential to reveal cryptic intronic variants associated to defective ATP6AP1 mRNA processing.
Morales-Romero et al
N-glycoproteomic and proteomic alterations in SRD5A3-deficient fibroblasts.
Garapati et al
In vitro treatment with liposome-encapsulated Mannose-1-phosphate restores N-glycosylation in PMM2-CDG patient-derived fibroblasts.
Shirakura et al
Liposome-encapsulated mannose-1-phosphate therapy improves global N-glycosylation in different congenital disorders of glycosylation.
Budhraja et al
D-mannose as a new therapy for fucokinase deficiency-related congenital disorder of glycosylation (FCSK-CDG).
Starosta et al
Glycoproteomics in Cerebrospinal Fluid Reveals Brain-Specific Glycosylation Changes.
Baerenfaenger et al
Neural and metabolic dysregulation in PMM2-deficient human in vitro neural models.
Radenkovic et al
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39:58
Exploring the disease burden in Arginase 1 deficiency
It's an Arg1 extravaganza as Reena Sharma, Sara Olofsson, Karolina Stepien and Alison Woodall discuss three separate papers looking at the Salford Royal experience of a cohort of adults with Arginase 1 deficiency and the wider health and societal cost of the condition.
Retrospective analysis of arginase 1 deficiency progression in adults over 5 years at a single metabolic centre
Reena Sharma et al
https://doi.org/10.1002/jmd2.12450
Disease burden among patients with Arginase 1 deficiency and their caregivers: A multinational, cross-sectional survey
Sara Olofsson et al
https://doi.org/10.1002/jmd2.12456
Societal costs and quality of life associated with arginase 1 deficiency in a European setting – a multinational, cross-sectional survey
Sara Olofsson et al
https://doi.org/10.1080/13696998.2024.2400856
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27:51
Shortcast: D,L-3-hydroxybutyrate in the treatment of glucose transporter 1 deficiency syndrome (Glut1DS)
In this Shortcast, Dr Aya Amer presents the New Zealand experience of using ketone (D,L-3-HB) supplementation in 12 patients (aged 10-50 years) with GLUT1DS.
D,L-3-hydroxybutyrate in the treatment of glucose transporter 1 deficiency syndrome (Glut1DS)
Aya Amer, et al
https://doi.org/10.1002/jmd2.12461
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.
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