Clinical Condition, Nutritional Status and Food Consumption of Patients with Maple Syrup Urine Disease

Abstract

Maple syrup urine disease (MSUD) is an inborn error of metabolism caused by an enzyme deficiency and leads to the accumulation of branched-chain amino acids (BCAAs), which are toxic to the body in high concentrations. Part of the treatment is based on dietary control and a reduced intake of BCAAs. The objective of this study was to describe the clinical condition, nutritional status and food consumption of patients with MSUD. Two patients diagnosed with MSUD were selected. Interviews and nutritional, body composition, and food consumption assessments were carried out. Energy, macronutrients, micronutrients, BCCAs, and fiber contents were estimate. All clinical data were obtained from medical records. Both patients showed manifestations of neuropsychomotor development delay with intellectual disability. Regarding nutritional status, one patient was overweight, and the other was underweight, with low functional capacity in both of them. A monotonous dietary pattern and a low intake of energy, proteins, vitamins, and minerals were observed, but there was a high consumption of BCAAs by one of the patients. Developmental and intellectual disabilities were observed besides the changes in nutritional status (underweight and overweight), low functional capacity, dietary inadequacies in terms of energy, macronutrients, and micronutrients, besides a monotonous food consumption pattern.