JIMD Podcasts

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

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

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...

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.or...

Dr Fanny Mochel returns to the podcast to answer the question, "What can pediatricians learn from adult inherited metabolic diseases?" Based on a talk at the SSIEM 2023 Annual Symposium. What can pediatricians learn from adult inherited metabolic diseases? Fanny Mochel https://doi.org/10.1002/jimd.12729

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

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

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 sapropte...

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

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. Nucle...

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 resu...

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 phen...

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://do...

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. Stolwi...

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 co...

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