Dallı Zincirli Organik Asidemi Hastalarının Beslenme Durumunun Değerlendirilmesi

Abstract

Branched-chain organic acidemia disease groups consist of Maple Syrup Urine Disease (MSUD), methylmalonic acidemia (MMA), propionic acidemia (PA) and isovaleric acidemia (IVA). Low protein diets form the basis of long-term treatment of the disease. While natural protein is restricted in patients, protein requirements are met with disease-specific amino acid mixtures. As a result of restriction of natural protein, growth retardation and some nutritional deficiencies occur in patients. This study was conducted to evaluate the nutritional status, anthropometric measurements, body composition and biochemical findings of branched-chain organic acidemia patients. Patients between the ages of 1 and 37, including 48 MSUD, 30 MMA/PA and 12 IVA patients, who were followed up in the Pediatric Metabolism Department of Hacettepe University Faculty of Medicine, Department of Child Health and Diseases, participated in this study. 24-hour retrospective food consumption records, food consumption frequencies, anthropometric measurements and BIA measurements of the patients who came to the hospital for control were taken. In addition, biochemical findings examined during routine controls were taken from their files. 16.7% of MSUD patients and 36.4% of MMA/PA patients were below -2SD, which is considered very poor. The rate of patients at risk for malnutrition between ≥-2SD<-1SD was found to be 50% in MSUD patients and 18.2% in MMA/PA patients. For all patients participating in the study, 41.1% of the patients were below <-2SD, defined as very short (stunted), and 23.3% were between ≥-2SD<-1SD, defined as short. When total protein intake was evaluated in g/day, it was found to be 48.1±14.6 g/day in MSUD patients, 28.6±11.4 g/day in MMA/PA patients and 34.8±14.9 g/day in IVA patients. . When total protein intake of MSUD patients is evaluated as g/kg, it is 1.3±0.6 g/kg in MSUD patients, 1.3±0.8 g/kg in MMA/PA patients, and 0.8±0.4 g/kg in IVA patients. It was found to be. While the average percentage of patients meeting their carbohydrate and fat requirements was 72.7±28.7 and 83±27.2, respectively, the percentage of meeting their fiber intake was found to be 49.9±27.3. In the food consumption records of the patients, it is seen that the total protein, carbohydrate, fat and fiber intake is insufficient. The total protein:energy ratio of 58.9% of the patients participating in the study was within the normal range, and no significant relationship was found between height-for-age and Z-score. Patients with branched chain organic acidemia are expected to have lower height-for-age. For this reason, patients should be closely monitored by a doctor and dietitian experienced in the field of metabolism.