Quadro clínico, estado nutricional e consumo alimentar de pacientes com doença da urina de xarope de bordo: relatos de casos

Abstract

Maple Syrup Urine Disease (DXB) or Leukinosis is an innate metabolism error caused by enzyme deficiency in the dehydrogenase complex of branched-chain alpha-keto acids, leading to the accumulation of branched-chain amino acids (AACR). These are toxic to the body in high concentrations. Part of the treatment is based on dietary control and reduced intake of AACR. Objectives: To describe the clinical condition, assess the nutritional status and food consumption of two patients with DXB. Methods: Two patients diagnosed with DXB were selected. Interviews, nutritional assessment, body composition analysis and food consumption assessment were carried out (food frequency questionnaire and 24-hour recalls (R24h). From R24h, energy, macronutrients, micronutrients, AACR and fiber contents were calculated total consumed). To assess the clinical condition, consultations were made in the medical records. Results: Both patients had manifestations of Neuropsychomotor Development Delay (NPMDD), with intellectual disability. Regarding nutritional status, overweight was observed in one patient and underweight in another, in addition to low functional capacity in both. The dietary assessment identified a monotonous pattern of food; low intake of energy, proteins, vitamins and minerals, in addition to high consumption of AACR by one of the patients. Conclusion: Both patients had developmental disabilities, with intellectual disabilities, changes in nutritional status (underweight and overweight), low functional capacity, in addition to low energy, macronutrient and micronutrient intake as well as food consumption.