JIMD Podcasts

Citrin deficiency challenges familiar assumptions about urea cycle disorders, from its changing clinical presentations to its distinctive dietary and emergency management. James Nurse speaks with Johannes Häberle, Saikat Santra and Barbara Yu of the Citrin Foundation, with contributions from Jun Kido, to explore diagnosis and care across the lifespan, differences between populations, and the evidence behind current treatments.

The discussion also questions the misleading idea of a ‘silent’ phase. Interviews with adults living with citrin deficiency reveal symptoms and effects on daily life that can escape routine clinical assessment. We consider what these experiences mean for recognising disease burden, measuring meaningful treatment outcomes and putting patients at the centre of research, before looking ahead to better biomarkers, earlier diagnosis and future therapies.

The therapeutic landscape of citrin deficiency
Toni Vuković, et al
https://doi.org/10.1002/jimd.12768

Citrin deficiency—The East-side story
Johannes Häberle
https://doi.org/10.1002/jimd.12772

Clinical landscape of citrin deficiency: A global perspective on a multifaceted condition
Jun Kido, et al
https://doi.org/10.1002/jimd.12722

Patient experience informing outcomes and research in rare disease: Citrin deficiency as a case study
Yurika Asami, et al
https://doi.org/10.1016/j.ymgme.2026.110141

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