Book About Citrin Deficiency

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 electronic copy of the English version of the book for free to patients who are willing to register with the patient registry of the Foundation.

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 will be ready soon, please kindly register us with if you are interested to get a soft copy of the English version of the book and register with our patient registry.

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.



Kimihiko Oishi, MD

Kimihiko Oishi, MDDr. Kimihiko Oishi is Assistant Professor of Department of Genetics and Genomic Sciences and Department of Pediatrics at Icahn School of Medicine at Mount Sinai in New York, USA. He received his medical degree from Jikei University School of Medicine in Tokyo, Japan, followed by Pediatrics residency at Jikei University Hospital. After his research fellowship in a molecular cardiology laboratory at Mount Sinai, he completed his Pediatrics Residency and Medical Genetics Fellowship at Mount Sinai Hospital. He joined the faculty at Icahn School of Medicine at Mount Sinai after completing his fellowship. Since then, Dr. Oishi has been working as an attending physician at the Program for Inherited Metabolic Diseases Clinic with a special interest in the mechanism of disease and development of new therapies for inborn errors of metabolism (IEM).

Dr. Oishi is a recipient of the Urea Cycle Disorder Consortium Fellowship with a project of clinical and molecular characterization of citrin deficiency in the US. With his leadership, his team made the English version of Prof. Saheki’s citrin deficiency book available for the Citrin Foundation. With his clinical and basic science training background in Japan and the United States and Dr. Oishi has medical license and board certifications in pediatrics and clinical genetics in these two countries.


Miki Watanabe, MD

Dr. Miki Watanabe

Stefanie Casillas, MS, RD, CDN

Setafanie Casillas, MS, RD, CDN

Ilona Ginevic MS, RD, CDN

Ilona Ginevic MS, RD, CDN

Amy L. Williamson, MS, CGC

Amy L. Williamson, MS, CGC

Chelsea Flanigan, BS

Chelsea Flanigan, BS


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Citrin Foundation

Citrin Foundation, set up in 2016 to tackle citrin deficiency, aims to provide end-to-end support to all citrin deficiency patients, from funding research that drives effective treatments and eventually cure, and provide support to patients and families. We are a patient-driven, not-for profit organization.

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