On 2 July 2026, the Citrin Foundation hosted an online patient gathering for individuals and families affected by citrin deficiency in Japan. With nearly 40 participants joining from Japan, the event provided an opportunity to learn from an expert, hear lived experiences, and connect as a community.

We were delighted to welcome an inspiring line-up of guest speakers. The programme included clinical updates, patient experience insights, and personal stories from those living with citrin deficiency.

Programme

Updates on the understanding and management of citrin deficiency

Dr Kimihiko Oishi – The Jikei University School of Medicine, Tokyo, Japan

Dr Kimihiko Oishi shared an overview of the latest scientific and clinical understanding of citrin deficiency. His presentation covered what citrin deficiency is, how and why it affects patients, and current approaches to disease management.

He discussed existing management strategies, including the use of medium-chain triglycerides (MCT), as well as the importance of avoiding alcohol and glycerol infusion. He also highlighted potential future therapeutic approaches, including L-ornithine L-aspartate, nicotinamide riboside/NAD+, messenger RNA replacement, and aralar replacement.

Dr Oishi also shared findings from his pilot study on the use of triheptanoin in patients with citrin deficiency, and discussed how this approach may potentially benefit patients in the future.

He concluded his talk with a positive message about how patients can manage their condition and live well with citrin deficiency.

Results from the In-Depth Survey of Citrin Deficiency Patients

Yurika Asami – Citrin Foundation

Yurika Asami presented findings from the Foundation’s recently published paper, “Patient experience informing outcomes and research in rare disease: Citrin deficiency as a case study”.

Her presentation highlighted the importance of patient-reported experience and explained how patient participation can help improve understanding of citrin deficiency, inform research priorities, and support the development of better management and treatment approaches.

The session also included interactive questions for participants, including what symptoms patients would like to see improve with new treatments in the future.

Being diagnosed as an adult and the journey to diagnosis

Maiko Tsukada

Maiko Tsukada shared her personal experience of being diagnosed with citrin deficiency as an adult.

Maiko was diagnosed at the age of 23, after searching online using her food likes and dislikes and coming across a blog written by someone living with citrin deficiency. She recognised the exact same food preferences in herself, which led her to seek testing. Her instinct ultimately led to a confirmed diagnosis. She shared that receiving her diagnosis brought her a deep sense of relief. It helped explain many things she had experienced throughout her life. She was not simply a picky eater. She was not tired because she was lazy. There was a reason behind what she had been feeling.

Her story was a powerful reminder of the importance of awareness, patient stories, and access to accurate information. We are deeply grateful to Maiko for sharing her journey so openly with our community.

Thank You!

We would like to sincerely thank all our speakers for sharing their valuable knowledge, experience, and personal stories with the citrin deficiency community.

We are also deeply grateful to all participants who joined the gathering.

We hope to host another patient gathering in the future and look forward to welcoming many more members of the citrin deficiency community in Japan.