The relationship between appetite hormones and body mass index in children with intoxication type metabolic diseases

Abstract Background The aim of this study is to comparatively examine the effects of appetite loss and insufficient energy intake, which trigger poor metabolic control parameters, on appetite hormones and body mass index in children with intoxication-type metabolic diseases, including Phenylketonuria, Organic Acidemia, Maple Syrup Urine Disease, and Urea Cycle Disorder, in comparison with a healthy control group. Methods The study sample consisted of 40 healthy children and 43 children with intoxication-type metabolic diseases, aged between 1 and 18 years. The mean age of the participants was 7.5 ± 4.60 years. The study was conducted with a total of 83 children, including 39 girls (47.0%) and 44 boys (53.0%). Results When the body mass index z-score values of all participants were examined, it was found that 2.6% had a body mass index below − 2 SD, 71.1% were within the range of (-2 SD to + 1 SD), and 25.3% were above + 1 SD. Peptide YY and adiponectin hormone levels were found to be significantly higher in the patient group compared to the control group ( p < 0,05). However, no significant difference was observed between the groups in terms of ghrelin, insulin, and leptin hormone levels ( p > 0,05). It was found that ghrelin hormone levels in the patient group significantly varied according to body mass index z-score distribution ( p < 0,05). Children in the ≤-2 SD group had significantly higher ghrelin hormone levels compared to those in the (-2 SD to + 1 SD) and > + 1 SD groups ( p < 0,05). Conclusions Significant alterations occur in the levels and signaling of appetite hormones in amino acid metabolism disorders. These changes result from factors such as low-protein diets, toxic metabolite accumulation, and organ dysfunction. Appetite hormone dysfunction can negatively affect patients’ energy intake and overall metabolic balance, leading to a decline in quality of life and adherence to treatment. Therefore, regular monitoring of appetite hormones and individualized dietary interventions should be considered essential strategies in the long-term nutritional management of these patients.