Dr Annet Bosch describes three cases where young adults developed worsening neurological symptoms after a change in diet. Initially confused with Guillan-Barré Syndrome, this treatable condition may be hard to diagnose but devastating to miss.

Find full details here: https://doi.org/10.1002/jmd2.12427

Dr Irena Muffels is joined by Professor Eva Morava to discuss insights into heterozygous DHDDS variants, an autosomal dominant IMD that appears to impact on multiple different metabolic pathways.

Assessing age of onset and clinical symptoms over time in patients with heterozygous pathogenic DHDDS variants

I. J. J. Muffels, et al

https://doi.org/10.1002/jimd.12769

Professor Phillip Pearl joins Eva Morava to discuss the footprints of metabolic epilepsies and a very brief introduction to the intertwined nature of music and neurology.

Read the referenced paper here: https://doi.org/10.1016/j.ymgme.2023.107690

Find IMDs associated with epilepsies at: http://iembase.org/gamuts/store/docs/IMDs_presenting_with_epilepsies_010124.pdf

Dr Henry Lee joins the podcast to discuss the challenges of developing gene therapies for inherited disorders of neurotransmission and shares the progress that his group has made with SSADH deficiency.

Gene replacement therapies for inherited disorders of neurotransmission: Current progress in succinic semialdehyde dehydrogenase deficiency

Henry H. C. Lee, et al

https://doi.org/10.1002/jimd.12735

Dr Tom Hartl discusses his group's work with a mouse model that knocks out both GALT and GALK and the insights that this provides into classic galactosemia.

Galactokinase 1 is the source of elevated galactose-1-phosphate and cerebrosides are modestly reduced in a mouse model of classic galactosemia

Linley Mangini, et al

https://doi.org/10.1002/jmd2.12438

Marjorie Dixon and Annemiek van Wegberg join guest host Curtis Coughlin II to complete the treatment puzzle in pyridoxine dependent epilepsy and explain the role and practicalities of lysine restriction in PDE.

Dietary management for pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency, a follow-on from the international consortium guidelines

Marjorie Dixon, et al

https://doi.org/10.1002/jmd2.12418

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 on language production in adult classic galactosemia patients

Britt Derks, et al

https://doi.org/10.1002/jimd.12742

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.org/10.1002/jmd2.12422