JIMD Podcasts

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 al https://doi.org/10.1002/jimd.12721

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

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

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

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

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

Listener feedback link: https://form.jotform.com/240459204544050 Kunwar 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 al https://doi.org/10.1002/jimd.12702

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

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

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

Returning guests, Nina Stolwijk and Dr Carla Hollak, and their colleague Dr Annet Bosch, try to untangle the tricky subject of regulation in nutritional products used as therapies in IMD. They also present a framework for when a food should be considered a medicine. Food or medicine? A European regulatory perspective on nutritional therapy products to treat inborn errors of metabolism N. N. Stolwijk, et al https://doi.org/10.1002/jimd.12677

Shelby Mills on behalf of the UTH Medical Genetics Team, invites you to consider three mystery cases serving to hi-light some common, and some less common, presenting features for a treatable inherited metabolic disease. Arginase deficiency masked by cerebral palsy and coagulopathy—Three varied presentations of Latin American origin Shelby L. Mills, et al https://doi.org/10.1002/jmd2.12397

Dr Sonam Gurung and Dr Julien Baruteau discuss movement disorders in Arginosuccinic aciduria and explain how recent work with mRNA therapy shows potential as a treatment in this condition. The incidence of movement disorder increases with age and contrasts with subtle and limited neuroimaging abnormalities in argininosuccinic aciduria Gurung et al https://doi.org/10.1002/jimd.12691 mRNA therapy corrects defective glutathione metabolism and restores ureagenesis in preclinical argininosuccinic aciduria Gurung et al https://doi.org/10.1126/scitranslmed.adh1334

Dr Malak Alghamdi unravels the mystery of a 32-year-old woman with a history of recurrent miscarriage and early neonatal death with congenital anomalies. Classical phenylketonuria presenting as maternal PKU syndrome in the offspring of an intellectually normal woman Malak Ali Alghamdi, et al https://doi.org/10.1002/jmd2.12384

In this podcast, Dr Roshni Vara discusses the experience of a single paediatric liver centre with children whose liver failure arose due to a mitochondrial DNA depletion syndrome. Hepatic presentations of mitochondrial DNA depletion syndrome in children: A single tertiary liver centre experience R. Vara, et al https://doi.org/10.1002/jimd.12633

Professor Jayesh Sheth shares 20 years of insights on diagnosing adult onset lysosomal storage disorders at a tertiary genetic centre in India. Lysosomal storage disorders identified in adult population from India: Experience of a tertiary genetic centre and review of literature Jayesh Sheth, et al https://doi.org/10.1002/jmd2.12407

Dr David Bick, Dr Jim Bonham MBE and Henrietta Hopkins re-create a panel from the SSIEM Annual Meeting in 2022 to discuss the use of whole genome sequencing in NBS, asking "are we entering a new era of screening?" Genomic newborn screening: Are we entering a new era of screening? Ute Spiekerkoetter, et al https://doi.org/10.1002/jimd.12650

Dr Sander Houten discusses a child with hyperlysinemia diagnosed via newborn screening and whether this reflects a disease or just a metabolic perturbation. This distinction is relevant as inducing this state may be a treatment option in GA1 or pyridoxine dependent epilepsy. A case of hyperlysinemia identified by urine newborn screening Mehdi Yeganeh, et al https://doi.org/10.1002/jmd2.12399

The Journal of Inherited Metabolic Disease Editorial Committee come together to talk about the direction of metabolic medicine, the dangers and potential of AI, impact factors, reviewing papers and their publication hopes for 2024. There's also a little metabolic quiz, allowing you to pit your wits against the committee. Featuring: Shamima Rahman, Matthias Baumgartner, Verena Peters, Marc Patterson, Johannes Zschocke and Sean Froese. Quo vadis now: Beyond genomics to an era of personalised medicine Shamima Rahman, et al https://doi.org/10.1002/jimd.12487 Risk and potential of ChatGPT in scientific publishing Verena Peters, et al https://doi.org/10.1002/jimd.12666

Blood spots are integral to disease monitoring in PKU, however, there are concerns regarding correlation between capillary and plasma levels and discrepancies arising based on sampling quality and storage. Dr Rachel Carling explains how a volumetric blood collection device presents a cost effective way to improve consistency and reduce rejected samples. Investigation of the relationship between phenylalanine in venous plasma and capillary blood using volumetric blood collection devices Rachel S. Carling, et al https://doi.org/10.1002/jmd2.12398