Food Preferences of Patients with Citrin Deficiency

Area of Science:

• Metabolic Disorders
• Nutritional Science
• Genetics

Background:

• Citrin deficiency presents diverse symptoms across age groups.
• Patients with citrin deficiency show a distinct dietary preference for high protein, high fat, and low carbohydrate diets.

Purpose of the Study:

• To investigate the specific food selection criteria and preferences of patients with citrin deficiency.
• To analyze the influence of macronutrient composition on food choices in citrin deficiency.

Main Methods:

• A survey was conducted on 70 patients with citrin deficiency and 55 control subjects.
• Food preferences for 435 items were assessed using a 1-4 rating scale.
• Multiple regression analysis was used to determine factors influencing food preference.

Main Results:

• Citrin deficiency patients disliked significantly more foods (36.5%) compared to controls (16.0%).
• Patients avoided foods with low protein (<20-24% energy), low fat (<45-54% energy), and high carbohydrate (>30-39% energy).
• Carbohydrate content most strongly influenced patient food preference (β = -0.503), with females showing higher aversion.

Conclusions:

• Citrin deficiency patients actively select foods to achieve a specific macronutrient ratio (approx. 20-22% protein, 47-51% fat, 28-32% carbohydrates).
• This self-initiated nutritional compensation begins early in life to manage metabolic dysregulation from citrin deficiency.