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Abstract
Citrin deficiency is characterized by a wide range of symptoms from infancy through adulthood and presents a distinct preference for a diet composed of high protein, high fat, and low carbohydrate. The present study elucidates the important criteria by patients with citrin deficiency for food selection through detailed analysis of their food preferences. The survey was conducted in 70 citrin-deficient patients aged 2–63 years and 55 control subjects aged 2–74 years and inquired about their preference for 435 food items using a scale of 1–4 (the higher, the more favored). The results showed that the foods marked as “dislike” accounted for 36.5% in the patient group, significantly higher than the 16.0% in the controls. The results also showed that patients clearly disliked foods with 20–24 (% of energy) or less protein, 45–54% (of energy) or less fat, and 30–39% (of energy) or more carbohydrate. Multiple regression analysis showed carbohydrates had the strongest influence on patients’ food preference (β = −0.503). It also showed female patients had a stronger aversion to foods with high carbohydrates than males. The protein, fat, and carbohydrate energy ratio (PFC) of highly favored foods among patients was almost the same as the average PFC ratio of their daily diet (protein 20–22: fat 47–51: carbohydrates 28–32). The data strongly suggest that from early infancy, patients start aspiring to a nutritional balance that can compensate for the metabolism dissonance caused by citrin deficiency in every food.
Highlights
Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) may be triggered in early life
Evidence suggests that various clinical symptoms, such as hypoglycemia, fatigue, failure to thrive, and fatty liver, are present during this period, which can affect the patients’ quality of life (QOL) [4,11,13], let alone the strong food preference
A survey inquiring about food preference, diagnosis, clinical phenotype at the time of diagnosis, physical data, and current treatment was distributed to patients with citrin deficiency through six large medical institutions and the Patient Association of Citrullinemia in Japan
Summary
The common clinical features of NICCD are jaundice, failure to thrive, and multiple amino acidemias, such as citrullinemia Most of these conditions resolve between 6 and 12 months of age following treatment with medium-chain triglyceride (MCT) milk and lipid-soluble vitamins [7,8,9,10,11,12]. Evidence suggests that various clinical symptoms, such as hypoglycemia, fatigue, failure to thrive, and fatty liver, are present during this period, which can affect the patients’ quality of life (QOL) [4,11,13], let alone the strong food preference. Failure to thrive with dyslipidemia caused by citrin deficiency is reported to be present during this period [16] It is important for patients in the adaptation/compensation stage to maintain physical wellness to prevent the onset of CTLN2 [11,13]. We conducted a survey in patients and controls living in the same household and asked questions on their food preferences
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