Anthropometrics, Dietary Intake and Body Composition in Urea Cycle Disorders and Branched Chain Organic Acidemias: A Case Study of 18 Adults on Low-Protein Diets

Low-protein diets (LPDs) are the mainstream treatment for inborn errors of intermediary protein metabolism (IEIPM), but dietary management differs worldwide. Most studies have investigated pediatric populations and their goals such as growth and metabolic balance, showing a tendency toward increasing overweight and obesity. Only a few studies have examined nutritional status and dietary intake of adult IEIPM patients on LPDs. We assessed nutritional parameters (dietary intake using a 7-day food diary record, body composition by bioimpedance analysis, and biochemical serum values) in a group of 18 adult patients with urea cycle disorders (UCDs) and branched chain organic acidemia (BCOA). Mean total protein intake was 0.61 +/- 0.2 g/kg/day (73.5% of WHO Safe Levels) and mean natural protein (PN) intake was 0.54 +/- 0.2 g/kg/day; 33.3% of patients consumed amino acid (AA) supplements. A totally of 39% of individuals presented a body mass index (BMI) > 25 kg/m(2) and patients on AA supplements had a mean BMI indicative of overweight. All patients reported low physical activity levels. Total energy intake was 24.2 +/- 5 kcal/kg/day, representing 72.1% of mean total energy expenditure estimated by predictive formulas. The protein energy ratio (P:E) was, on average, 2.22 g/100 kcal/day. Plasmatic levels of albumin, amino acids, and lipid profiles exhibited normal ranges. Phase angle (PA) was, on average, 6.0 degrees +/- 0.9 degrees. Fat mass percentage (FM%) was 22% +/- 9% in men and 36% +/- 4% in women. FM% was inversely and significantly related to total and natural protein intake. Data from IEIPM adults on LPDs confirmed the pediatric trend of increasing overweight and obesity despite a low energy intake. A low protein intake may contribute to an increased fat mass. Nutritional parameters and a healthy lifestyle should be routinely assessed in order to optimize nutritional status and possibly reduce risk of cardiovascular degenerative diseases in adult UCD and BCOA patients on LPDs.