Masahide YAZAKI, MD, PhD
Institute for Biomedical Sciences, Shinshu University

Detailed genetic testing for patients suspected of having citrin deficiency

Background:  

The SLC25A13 genetic testing method was first established in 1990 by the group at Kagoshima University, led by Associate Professor Keiko Kobayashi and Professor Takeyori Saheki who played an active role in conducting genetic testing for the diagnosis of citrin deficiency. On Prof. Saheki’s retirement and Associate Prof. Kobayashi’s illness, Shinshu University succeeded them in 2014 and has since engaged in genetic analysis for many patients. 

Study: 

While in most cases, both variants were identified and the diagnosis of citrin deficiency was confirmed, there were a few cases with only one variant identified despite patients displaying clinical symptoms of suspected citrin deficiency. Hence, we collaborated with Dr. Kimihiko Oishi at Icahn School of Medicine at Mount Sinai to conduct more detailed genetic testing for cases that could not be diagnosed despite the clinical symptoms. The samples of patients at our hospital and those from the patients previously tested at Kagoshima University before being relocated to Kagoshima University are being sent to Dr. Oishi for further genetic analysis. With the confirmed results we hope patients can start the right treatment program.

(Updated July 2022)