Dr. Takeyori Saheki wrote a book about citrin deficiency to explain the condition in detail to patients and doctors who want to know more about this condition. His book gives a comprehensive review of what causes the condition and how it affects the metabolic system in the body with detailed explanations of how the relevant metabolic systems work. It also includes patients’ stories, diet recommendations, what we are up to in terms of research into this condition, and what the outstanding questions are. It is the most comprehensive resource one can find regarding citrin deficiency.
We are extremely grateful to Dr. Saheki who wrote this book and who agreed to distribute the English version of the book for free to patients and doctors who are willing to fill out a survey.
We are also tremendously grateful to Dr. Kimihiko Oishi and his team who translated the book from Japanese to English on a pro bono basis to help patients and doctors worldwide to have a better understanding of this condition. It was painstaking work and Dr. Oishi and his team did it out of their passion and desire to help patients so that they could be better informed. The translated book is ready now.
Special thanks to Dr. Kimihiko Oishi and his team at Mount Sinai Hospital for accomplishing the enormous task of translating the book from Japanese to English.
For patients or families of patients, you can obtain a complimentary copy of the book by registering for our patient registry. For all medical practitioners who are interested in obtaining a copy of the book, kindly email us your request at info@citrinfoundation.org.
Takeyori Saheki
Professor Takeyori Saheki graduated from Graduate School of Medicine, Tokushima University in 1970, and he got a PhD degree at Tokushima University. In 1980, he was appointed as Professor of Biochemistry, Faculty of Medicine, Kagoshima University. At present, he is a Guest Researcher at Department of Hygiene and Health Promotion Medicine, Kagoshima University Graduate School of Medical and Dental Sciences.
Professor Saheki characterized a type of hepatocerebral disease biochemically as adult-onset type II citrullinemia (CTLN2). He discovered the causative gene for CTLN2 and showed that the same gene is the cause of neonatal intrahepatic cholestasis (NICCD). He named the diseases citrin deficiency, and identified the gene encoding mitochondrial aspartate glutamate carrier. Also, Prof. Saheki invented a mouse model for citrin deficiency, citrin and mitochondrial glycerol 3-phosphate dehydrogenase double-KO mouse, and by using the model, characterized pathophysiology of citrin deficiency and developed novel therapeutic procedures for the disease.
Academic Awards: in 2000, from Japanese Society for Inherited Metabolic Diseases, and in 2003 from the Japan Society of Human Genetics.
