JIMD Podcasts

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