Reduced carbohydrate intake in citrin-deficient subjects

Area of Science:

• Biochemistry
• Genetics
• Metabolic Disorders

Background:

• Citrin, the mitochondrial aspartate-glutamate carrier, is encoded by the SLC25A13 gene.
• Mutations in SLC25A13 cause citrin deficiency, leading to type II citrullinaemia (CTLN2) and neonatal intrahepatic cholestasis (NICCD).
• Patients with CTLN2 often report an aversion to carbohydrates, suggesting a link between diet and disease pathophysiology.

Purpose of the Study:

• To investigate the dietary habits of citrin-deficient individuals.
• To quantify carbohydrate intake in Japanese patients with citrin deficiency.
• To explore the relationship between food preferences and the pathophysiology of citrin deficiency.

Main Methods:

• Monitored food intake in 18 Japanese subjects with citrin deficiency (ages 1-33).
• Compared dietary data against published values for the general Japanese population.
• Analyzed macronutrient distribution, specifically carbohydrate contribution to total energy intake (PFC ratio).

Main Results:

• Citrin-deficient subjects showed a marked decrease in carbohydrate intake.
• Carbohydrates constituted a smaller proportion of total energy intake (PFC ratio) in patients.
• Carbohydrate intake fell into lower centile distributions compared to age- and sex-matched controls.

Conclusions:

• Citrin-deficient patients actively avoid carbohydrate-rich foods.
• This dietary avoidance may be linked to the underlying pathophysiology of citrin deficiency.
• Altered dietary patterns in citrin deficiency warrant further investigation for therapeutic implications.