We are pleased to announce a publication by Professor Jun Kido and Professor Johannes Häberle, titled “Clinical Landscape of Citrin Deficiency: A Global Perspective on a Multifaceted Condition”, which was prepared during Professor Kido’s fellowship at the University Children’s Hospital Zürich. This work was supported by the Citrin Foundation Study Abroad Award. The paper was published in the Journal of Inherited Metabolic Disease and is available for viewing here: Journal of Inherited Metabolic Diseases| Clinical Landscape of Citrin Deficiency: A Global Perspective on a Multifaceted Condition
This paper comprehensively reviews the existing literature on the clinical landscape of citrin deficiency and provides an updated global overview of the condition, examining its genetic basis, diverse clinical presentations, newborn screening, diagnosis, and clinical research. Notably, it introduces a new nomenclature: Adolescent and Adult Citrin Deficiency (AACD), replacing the previous term, Citrullinemia Type 2 (CTLN2). Additionally, for the first time, the paper shares updated clinical insights on the citrin deficiency cohort in the UK, contributed by one of the co-authors, Dr. Saikat Santra.
This review is much needed as it fills a significant gap in the literature. We believe the paper will greatly enhance our clinical understanding of citrin deficiency and serve as a valuable resource for the medical and research communities. The authors also dedicated this work to Professor Takeyori Saheki, a pioneer in the description of citrin deficiency and beyond.
There is another paper published closely after this publication titled “The therapeutic landscape of citrin deficiency“. Both papers were supported in part by the Citrin Foundation. They are highly complementary and will be published back-to-back in a planned special issue of JIMD.
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
