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