We are pleased to share with you this diet study conducted by Dr. Yoshiyuki Okano and sponsored by Citrin Foundation. Dr. Okano has written the paper, titled “Analysis of daily energy, protein, fat, and carbohydrate intake in citrin-deficient patients: Towards prevention of adult-onset type II citrullinemia”, and it is available for viewing here: https://doi.org/10.1016/j.ymgme.2021.03.004 (Under a Creative Common license)

The paper shares survey results showing that citrin deficiency patients typically had an energy intake that was 115% of the standard Japanese diet. Survey results also illustrated that patients typically had a diet with higher protein, higher fat and lower carbohydrate ratios as compared to the previous reports, even though the amount of carbohydrates consumed remained the same. Female patients were also reportedly less inclined to consume carbohydrates as compared to male patients. Lastly, while patients were reported to have a higher caloric intake, they generally were not overweight. These results shows us that a diet intervention that is high-energy and low in carbohydrates could potentially help citrin-deficient patients attain normal growth and prevent the onset of CTLN2.

Since the discovery of citrin deficiency, there has not been a cure developed for this disease. However, Dr Okano has improved on the current therapeutic interventions of the condition by providing an updated evaluation of food and nutritional intake and offering new dietary recommendations that could help to prevent the onset of CTLN2.

A summary of this study can be found here.

Citrin Foundation sponsored the study of this updated diet evaluation and we hope that it can serve as a useful guide for citrin patients and medical professionals in the management of citrin deficiency.

We are grateful that we have been able to make so much progress in understanding and managing citrin deficiency and we are dedicated in continuing our research efforts to find a cure for this disease.

We value any feedback or ideas you might have, so please do not hesitate to contact us at info@citrinfoundation.org.