Latest Announcement:

New Publication on Citrin Deficiency by Dr. Jun Kido and Professor Kimitoshi Nakamura partially supported by Citrin Foundation

We are pleased to announce a new publication by Dr. Jun Kido and Professor Kimitoshi Nakamura from Kumamoto University.

The paper is published in the Journal of Inherited Metabolic Disease and is titled “Improved sensitivity and specificity for citrin deficiency using selected amino acids and acylcarnitines in the newborn screening”.

This paper 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. Please click here to learn more about the paper.

We believe the findings of the study will significantly contribute to our efforts towards uncovering and diagnosing more patients. We would like to congratulate Dr. Jun Kido and Professor Kimitoshi Nakamura on their achievement and we hope you will find the article helpful.

YOU MAY READ MORE PUBLICATIONS SUPPORTED BY CITRIN FOUNDATION HERE

Here’s a list of announcements from Citrin Foundation on latest press releases, updates, publications and scientific breakthroughs. Please click on the title of the article to find out more.

22/3/2023: New Publications on Citrin Deficiency by Professor Paul Yen’s Team and Professor Jorgina Satrústegui’s Team

17/6/2022: Dr. Sotiria Tavoulari (Roula) and Professor Edmund Kunji publishes an updated overview of Citrin Deficiency

20/5/2022: Appointment of Professor Hannele Yki-Järvinen as a member of the Scientific Supervisory Board

1/11/2021: Appointment of Professor Johannes Häberle as a member of the Scientific Supervisory Board

26/10/2021: Eulogy for Dr. Yoshiyuki Okano

14/10/2021: Appointment of Sir John Walker as the Chairman of Citrin Foundation’s Scientific Supervisory Board

6/9/2021: Dr. Yoshiyuki Okano publishes the updated food preference of Citrin Deficiency patients

30/3/2021: ChromaDex and Citrin Foundation Announce Global Research Collaboration Exploring Citrin Deficiency

21/3/2021: Dr Yoshiyuki Okano publishes updated dietary survey for Citrin Deficiency patients 

4/6/2020: Professor Takeyori Saheki publishes the history of identification and the construction of therapeutic procedures for Citrin Deficiency  

13/8/2019: Dr Yoshiyuki Okano publishes the first Medical Treatment Guideline for Citrin Deficiency patients

12/3/2019: Professor Takeyori Saheki publishes a major breakthrough in scientific research