Evaluation of Body Composition and Nutritional Status in Patients with Inborn Errors of Metabolism

Résumé

It is a descriptive observational study that includes patients coming from the Unit of Diagnosis and Treatment of Congenital Metabolic Diseases of the CHUS that go to the Consultation of Pediatric Nutrition. Inborn errors of metabolism (IEM) are genetically based entities generally characterized by enzyme deficiencies that result in the accumulation of toxic compounds in the body. Children with IEM must follow a special diet restricted in essential nutrients, which can put them at risk for nutritional disorders. This study's objective is to evaluate body composition and nutritional status in patients with IEM and controls, as well as their relationship to lifestyles, food intake, and physical activity. The objective of this study is to try to evaluate body composition and nutritional status in patients ( children age 5 - 19 years old) diagnosed with IEM, in addition, to determine whether Bone Mineral Density (BMD) correlation with diet. It also assessed the effects of prolonged dietary restrictions on the state of micronutrients and the role of physical activity in body