IMD Research Round-Up: HFI & fructose metabolism

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