Five patients with maple syrup urine disease were treated intravenously with branched-chain amino acid-free solution of amino acids during nine episodes of acute illness and are reported from the Children’s Hospital of Philadelphia, PA. In a regimen of total parenteral nutrition a 9% branched-chain amino acid-free solution of amino acids reduced plasma leucine levels in acutely ill infants and young children with maple syrup urine disease. The steps in treatment included rapid correction of dehydration or acidosis; recommended dietary allowance of calories; age dependent minimal requirement of amino acids; supplements of isoleucine or valine to prevent deficiency; and treatment of hyperglycemia with insulin. The use of the modified parenteral nutrition was associated with relief from vomiting, improvement in consciousness, and return to the maple syrup urine disease formula. The authors stress the value of this therapy in all acutely ill patients with plasma leucine levels between 1 and 2 mmol per liter who cannot tolerate enteral nutritional therapy. [1]

COMMENT. Peritoneal dialysis and hemodialysis have proved effective in the treatment of acute metabolic decompensation in these patients but in those who are not comatose, this form of modified nutritional therapy may be more appropriate. The treatment was thought to lower the plasma leucine levels by favoring the flux of branched-chain amino acids into body protein.