We are pleased to highlight this review examining the metabolic mechanisms underlying citrin deficiency (CD), drawing on findings from both patient studies and experimental models.

You may read the full publication here: https://www.mdpi.com/4119820

This review provides an overview of the metabolic mechanisms underlying citrin deficiency (CD), drawing on findings from patient studies and experimental models. The authors examine how loss of citrin function disrupts the malate–aspartate shuttle and cellular redox balance, and the resulting effects on carbohydrate, lipid and nitrogen metabolism.

The review discusses recent advances in understanding CD pathophysiology, including the role of glycerol-3-phosphate (G3P) in ChREBP and FGF21 signalling, mechanisms contributing to hepatic steatosis, and the importance of aspartate availability in urea cycle dysfunction. It also highlights important gaps in current knowledge, particularly how these metabolic disturbances relate to symptom development and disease progression, as well as how patients adapt metabolically over time.

By bringing together established findings and recent mechanistic discoveries, this review provides a useful overview of current understanding of CD and identifies areas where further investigation is needed. We warmly congratulate the authors on this contribution to the field.

This review is part of the Special Issue “Citrin Deficiency: Molecular Pathogenesis and Novel Targets for Therapy” in Biomolecules, guest-edited by Professor Takeyori Saheki.

The Foundation continues to fund research projects to better understand citrin deficiency and ultimately find a cure for this condition. We have thus far earmarked US$30 million for research on citrin deficiency are currently offering generous research grants to study the condition. You may find out more about our Funding Opportunities here: https://citrinfoundation.org/research/funding-opportunities/.

We value any feedback or ideas you might have, so please do not hesitate to contact us at info@citrinfoundation.org