We are pleased to announce a publication by Dr. Jun Kido and Professor Kimitoshi Nakamura whose work was partially supported by Citrin Foundation. The paper, titled “Improved sensitivity and specificity for citrin deficiency using selected amino acids and acylcarnitines in the newborn screening” was published in the Journal of Inherited Metabolic Disease and is available for viewing here: Journal of Inherited Metabolic Diseases| Improved sensitivity and specificity for citrin deficiency using selected amino acids and acylcarnitines in the newborn screening

Current newborn screening (NBS) methods for citrin deficiency using citrulline levels have a tendency to miss some patients. The following study by Kido et al. explores the use of a new method of NBS to improve the detection of NICCD patients by combining the evaluation of arginine (Arg), citrulline (Cit), isoleucine+leucine (Ile + Leu), tyrosine (Tyr), and free carnitine (C0)/glutarylcarnitine (C5-DC) ratios. A retrospective re-analysis of NBS results from 96 NICCD patients using this new method showed that it was significantly more sensitive than existing NBS methods at diagnosing patients with NICCD, including pre-symptomatic newborns who were later diagnosed with the condition. The authors propose that the following method could be implemented to existing NBS programs at no additional cost to enhance the accuracy of diagnosing patients. 

We believe that the findings from this paper will be beneficial in uncovering and diagnosing more CD patients globally. We hope that it will serve as an important resource for clinicians going forward. 

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