JIMD Podcasts

Professor David Cassiman, Professor of Hepatology and Inherited Metabolic Diseases at KU Leuven, and Dr Martijn Brouwers, internist-endocrinologist and Head of the Division of Endocrinology and Metabolic Disease at Maastricht University Medical Center, join Rodrigo Starosta and Silvia Radenkovic to discuss recent advances in fructose metabolism.

From the challenges of dietary treatment in hereditary fructose intolerance to ketohexokinase inhibition, endogenous fructose production and the links between rare metabolic disease and MASLD, this Research Round-Up explores how studying inborn errors of fructose metabolism can provide insights far beyond rare disease.

Authors’ opinions are their own and do not represent their institutions.

The papers discussed include:

Treatment preferences of adult patients with hereditary fructose intolerance: A discrete choice experiment.

Janssen et al

Safety and efficacy of pharmacological inhibition of ketohexokinase in hereditary fructose intolerance.

Koene et al

Rare monogenic causes of steatotic liver disease masquerading as MASLD.

Brouwers & Cassiman

Endogenous fructose production in patients and mice with aldolase B deficiency.

Buziau et al

KHK inhibition for the treatment of hereditary fructose intolerance and nonalcoholic fatty liver disease: a double-edged sword.

Pinheiro et al

Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes.

Cortese et al

Dr Boel Ernerdahl presents her groups observations around the make up of adult patients with neurometabolic disorders at a single centre in Sweden.

Characterization of Adult Patients With Neurometabolic Disorders: A Cross-Sectional Study at a Tertiary Neurology Center in Sweden

Boel Ernerdahl, Ashraf Yahia, Andreas Puschmann

https://doi.org/10.1002/jmd2.70115

One newborn screen. Two very different diagnoses. And treatments that pull in opposite directions.

In this JIMD Reports Shortcast, Dr Anne Kwok from Hong Kong Children’s Hospital presents a newborn with markedly elevated citrulline, where distinguishing citrin deficiency from citrullinaemia type I became critical as initial treatment was followed by rapidly worsening liver failure.

Neonatal Acute Liver Failure due to Citrin Deficiency (NALFCD)

Hoi-Yin Chan, et al

https://doi.org/10.1002/jmd2.70110

Remethylation disorders are clinical chameleons, presenting with neurological, psychiatric, ophthalmological, renal or multisystem disease.

Professor Martina Huemer joins the JIMD Podcast to discuss the revised international guidelines, including when to measure total homocysteine, newborn screening and the move towards high-dose hydroxocobalamin. She also explains why shared treatment protocols are needed to strengthen the evidence behind future recommendations.

First Revision of the Guidelines for the Diagnosis and Management of Remethylation Disorders

Giorgia Olivieri et al.

https://doi.org/10.1002/jimd.70177

A young girl develops progressive neurological symptoms and a biomarker profile pointing strongly towards a particular metabolic disorder. There’s just one problem: the genetic testing is negative.

In this Metabolic Mystery, Dr Ayca Burcu Kahraman follows the clues beyond conventional DNA testing to finally crack the case.

Can you solve it before she does?

Read the paper: https://doi.org/10.1055/a-2903-9323

A 7-year-old boy presents following a suspected seizure, with a history of progressive ataxia and tremor. An MRI offers an important clue but a seemingly reassuring blood result complicates the picture.

In this Metabolic Mystery, Dr Steven Lang follows the clues to uncover a treatable metabolic diagnosis.

Can you solve the case before he does?

Read the paper: https://doi.org/10.1542/pir.2025-007029

Cytopenias and infections are familiar complications of branched-chain organic acidemias, but are they simply consequences of metabolic decompensation?

Abdul Shakerdi and Jerry Vockley join the JIMD Podcast to explore evidence that persistent immune dysfunction and inflammation may be fundamental parts of the disease phenotype, with implications for clinical care, research and emerging therapies.

Immune Dysregulation in Branched Chain Organic Acidemias

Abdul L. Shakerdi, et al

https://doi.org/10.1002/jimd.70203

In this JIMD Reports Shortcast, Dr Eamon McCarron presents a challenging pregnancy in a woman with lysinuric protein intolerance complicated by immune dysregulation and severe thrombocytopenia.

Hear how multidisciplinary management supported a favourable outcome for both mother and baby.

Pregnancy in Lysinuric Protein Intolerance Complicated by Immune Dysregulation and Severe Thrombocytopenia

Eamon P. McCarron, et al

https://doi.org/10.1002/jmd2.70109

Could some mitochondrial disorders also be treatable interferonopathies?

In a new JIMD Reports Shortcast, Dan Brooks and Fernando Scaglia look at a fascinating case of PNPT1-related mitochondrial disease in which mitochondrial dysfunction was accompanied by activation of the type I interferon pathway.

Treatment with the JAK inhibitor tofacitinib normalised the interferon signature and was associated with improvements in biochemical and clinical measures. As a single case it is necessarily preliminary, but it provides an intriguing example of how understanding the crosstalk between mitochondria and the immune system might open up new therapeutic approaches.

JAK Inhibition in PNPT1-Related Mitochondrial Interferonopathy: A Case Report and Review of Mitochondrial–Immune Crosstalk

Dan Ross Brooks, et al

https://doi.org/10.1002/jmd2.70096

In the fifth, and thankfully final, update from Helsinki, James and Silvia return to provide their inimitable take on the sessions from Thursday with a look ahead to Friday’s sessions. They find themselves looking well beyond the last day, as James speaks with Dr Ina Knerr about preparations for the SSIEM 2027 meeting in Dublin. James gets yet another geography lesson and we hear from a bumper helping of conference attendees finally keen to discuss their posters.

So long Helsinki, it’s been wonderful.