Kimitoshi NAKAMURA, MD, PhD
Department of Pediatrics, Graduate School of Medical Sciences, Kumamoto University

Establishment of Citrin Deficiency Center of Excellence at Kumamoto University

We plan to establish a Citrin Deficiency(CD) Center of Excellence at Kumamoto University with the goals of setting the gold standard in terms of diagnosis and management of citrin deficiency, uncovering more patients, collecting and analyzing comprehensive clinical information and fostering collaboration within the relevant medical community. We hope to further our understanding of the condition and accelerate the discovery of potential treatments and therapeutics.

In particular, the center of excellence will have the following initiatives:

  1. Expand current newborn screening (NBS) system to improve the diagnosis of patients. Current NBS in Japan can only detect less than 10% of NICCD patients. We aim to improve the current NBS evaluation system to allow us to detect a higher percentage of patients.
  2. Establish a next generation sequencing system (NGS) to definitely diagnose patients who are not detected by the first tier PCR system to improve the accuracy of diagnosis for citrin deficiency in Japan.
  3. Following on the success of our recent survey, we will conduct nationwide survey to expand our reach to include other departments in the medical institutions such as hepatology, neurology, psychiatry, to target patients with clinical manifestations including food preference, alcohol aversion, low BMI and fatty liver, with the aim to uncover more patients, especially adult patients.
  4. Organize an annual conference at Kumamoto University for the consortium of clinicians and scientists who treat and study CD, to discuss and share clinical information and outcomes, with the hope to deepen our understanding of the condition, leading to improvement in treatment and management guidelines.
  5. Develop a globally applicable suggested guidelines for the diagnosis and management of CD based on our current guidelines developed in 2019, incorporating our findings in the latest nationwide survey and the new information that we will collect under the initiatives at this Center. We will also collaborate with Prof Johannes Häberle on these guidelines and aim to make it available to clinicians who are interested in CD worldwide.
  6. Establish clinical studies and research standard in collaboration with Prof Johannes Häberle to set the standard for clinical studies regarding CD.

(Updated August 2022)