Evaluation of risk factors for NON-communicable chronic diseases in inborn errors of metabolism with dietary treatments and solution proposals

There is increasing concern that protein-restricted, carbohydrate-rich nutrition therapies instituted in inherited disorders of amino acid metabolism, may have negative effects on body composition in the long term and may cause the development of chronic non-communicable diseases such as obesity and metabolic syndrome in patients. In our study, 112 patients with 4 different inherited disorders of amino acid metabolism, who received nutritional therapy for at least two years, and a control group of 28 people, consisting of their healthy siblings, were evaluated in terms of overweight and metabolic syndrome development using anthropometric evaluations, body composition analysis, and biochemical tests. There was no increased risk for overweight and metabolic syndrome in the patient groups when compared with the control group. However, symptoms for nutritional deficiencies have been observed, especially in patients with the diagnosis of urea cycle disorders. Monitoring of anthropometric evaluations, body composition analysis, and biochemical evaluations may prevent all forms of undernutrition in patient groups receiving nutrition therapies with nutrient restrictions.