Citrin Deficiency: Molecular Pathogenesis and Novel Targets for Therapy
A special issue of Biomolecules (ISSN 2218-273X). This special issue belongs to the section "Molecular Medicine".
Deadline for manuscript submissions: 31 March 2026 | Viewed by 11
Special Issue Editor
Interests: citrin deficiency
Special Issue Information
Dear Colleagues,
Citrin deficiency is caused by mutations of SLC25A13, which encodes mitochondrial aspartate glutamate carrier, or citrin. Citrin deficiency causes many diseases, including CTLN2 or adult-onset type 2 citrullinemia at adult age, neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) in the neonatal period, failure to thrive and dyslipidemia caused by citrin deficiency (FTTDCD) in the adolescent period and many other disease states and symptoms, including liver failure, hepatocellular cancinoma, pancreatitis, preference for protein- and fat-rich foods and aversion to sugars and carbohydrate-rich foods, anorexia and so on. This indicates the importance of functions of asratate glutamate carrier in many metabolic processes. Therapeutic procedures for citrin deficiency are very important not only for the treatment of citrin deficiency, but also the understanding of coordinate metabolic processes. Finally, the mouse model of the disease, citrin/mitochondrial glycerol 3-phosphate dehydrogenase double-knockout mouse, will be very important for creating useful treatment methods.
Dr. Takeyori Saheki
Guest Editor
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Keywords
- citrin deficiency
- pathogenesis
- therapeutic procedures
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