The survey study was designed to understand the food preference of citrin deficiency patients and to elucidate the important criteria for their food selection. The patients and their family who served as controls were asked their preference for 435 food items on a scale of 1-4. Survey results showed that patients disliked more foods than controls. The foods they dislike are found to contain higher carbohydrate, lower fat, and lower protein. The study also revealed that carbohydrate, among the energy-producing nutrients, had the strongest influence on patients’ food preference, and female patients tended to have a stronger aversion towards high carbohydrate foods compared to male patients.

The survey concluded that from very early childhood patients start to prefer foods that compensate for the metabolism dissonance caused by citrin deficiency. Appropriate dietary treatment may prevent the onset of CTLN2 and helps improve the wellness of children by preventing hypoglycemia, reducing fatigue, and improving their quality of life. Citrin Foundation sponsored this study on patient’s food preferences, and we hope that it serves as a helpful guide for patients, family members, and medical professionals in understanding the food preferences and important criteria of food selection for citrin deficiency patients.