The relationship of the family's disease and food label reading information with the children's nutritional status and quality of life in children and adolescents with galactosemia

This study aimed to determine the relationship between the disease and nutritional label reading information of patients with galactosemia and their families, and the nutritional status and quality of life of the children. The study was conducted on 34 patients and their families, 15 (44.1%) males and 19 (55.9%) females, aged between 2-18 years, who were followed up with a diagnosis of Galactosemia at Çukurova University Balcalı Hospital Pediatric Metabolism Polyclinic. . It was determined that 67.6% of the families had consanguineous marriages and 61.8% of the patients had a history of siblings with galactosemia. 17.6%(6) of the patients are of normal weight, 29.4%(10) are underweight and 2.9%(1) are very thin. In terms of height, 32.4% (11) are normal, 41.2% (14) are short, 23.5% (8) are very short (stunt) and 2.9% (1) are short. is long. In waist circumference/height evaluation, 20.6% (7) are in the risk group. It was observed that 44.1% of the patients generally complied with the diet and compliance with the diet decreased with age (p<0.05). 52.9% of patients use formula, and 67.6% use at least 1 nutritional supplement. The nutritional habits of the patients were examined, and the information obtained from the food consumption record (BTK) and food consumption frequency forms were evaluated according to the Turkey Nutrition Guide - 2022 (TÜBER-2022). It was observed that 47.1% of the patients could not meet their daily energy needs, many patients were below the adequate daily intake level in micronutrient intake, and the most deficiency was in calcium intake.Calcium intake of patients who did not use formula was significantly lower than those who did (p<0.05). It was observed that families had basic knowledge but did not have detailed information, the most lack of knowledge was about reading labels, and as their level of knowledge increased, compliance with the diet increased. Quality of life scale scores of the patients were found to be lower than the scores of healthy children in sample studies. It has been observed that the quality of life decreases with age, the quality of life of men is higher than that of women, and the use of formula or nutritional supplements does not affect the quality of life. Quality of life was found to be higher in the group that followed the diet and did not skip meals. Finally, it has been determined that as the level of knowledge of patients decreases, their quality of life also decreases. It is thought that new disease-specific strategies can be developed, the level of knowledge of families and the quality of life of patients can be increased through different studies with a larger number of patients.