Classical maple syrup urine disease and brain development: principles of management and formula design
KA Strauss, B Wardley, D Robinson… - Molecular genetics and …, 2010 - Elsevier
Branched-chain ketoacid dehydrogenase deficiency results in complex and volatile
metabolic derangements that threaten brain development. Treatment for classical maple
syrup urine disease (MSUD) should address this underlying physiology while also
protecting children from nutrient deficiencies. Based on a 20-year experience managing 79
patients, we designed a study formula to (1) optimize transport of seven amino acids (Tyr,
Trp, His, Met, Thr, Gln, Phe) that compete with branched-chain amino acids (BCAAs) for …
metabolic derangements that threaten brain development. Treatment for classical maple
syrup urine disease (MSUD) should address this underlying physiology while also
protecting children from nutrient deficiencies. Based on a 20-year experience managing 79
patients, we designed a study formula to (1) optimize transport of seven amino acids (Tyr,
Trp, His, Met, Thr, Gln, Phe) that compete with branched-chain amino acids (BCAAs) for …
