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BOTH THE clinical picture and the metabolic abnormality in maple urine disease pose special problems in its management. The rapid progression of symptoms (from feeding problems and apathy to the onset of central nervous system signs with periods of hypertonicity alternating with hypotonia, loss of Moro's reflex, difficulties with respiration to convulsions and death) makes prompt and proper treatment imperative. The nature of the defect, involving three essential amino acids, triples the problems of dietary management. In the seven years since treatment of the first case was initiated,1 our group at New York University has been able to develop a fairly well-defined schedule for initiating and continuing therapy.The metabolic defect is the failure of oxidative decarboxylation of the keto-acid derivatives of the branched chain amino acids (Fig 1). This results in the accumulation of these compounds as well as of the branched chain amino acids (leucine, isoleucine, and valine) in the plasma, red blood cells, urine, and cerebrospinal fluid. The aim of therapy, to bring these levels back to nor¬ mal as rapidly as possible, has been accom¬ plished by the use of a completely synthetic diet, the protein moiety of which is a mix¬ ture of L-amino acids (Table 1). Treatment is instituted with complete omission of the branched chain-amino acids while the plasma amino acids are monitored frequently, every two or three days. As the level of each branched chain amino acid returns to normal, supplementation with that amino acid in the form of a pure solution is started. We prefer the use of the amino acid at this point to a natural food such as milk in order to provide the exact requirement of each amino acid rather than the fixed ratio present in food. After the plasma levels have become more stable, small quantities of milk are used to provide the necessary amounts of the Table 1.-Composition of the Synthetic Diet Component Amount (gm) Percentage of Total Calories L-amino acid mixture L-alanine
BOTH THE clinical picture and the metabolic abnormality in maple urine disease pose special problems in its management. The rapid progression of symptoms (from feeding problems and apathy to the onset of central nervous system signs with periods of hypertonicity alternating with hypotonia, loss of Moro's reflex, difficulties with respiration to convulsions and death) makes prompt and proper treatment imperative. The nature of the defect, involving three essential amino acids, triples the problems of dietary management. In the seven years since treatment of the first case was initiated,1 our group at New York University has been able to develop a fairly well-defined schedule for initiating and continuing therapy.The metabolic defect is the failure of oxidative decarboxylation of the keto-acid derivatives of the branched chain amino acids (Fig 1). This results in the accumulation of these compounds as well as of the branched chain amino acids (leucine, isoleucine, and valine) in the plasma, red blood cells, urine, and cerebrospinal fluid. The aim of therapy, to bring these levels back to nor¬ mal as rapidly as possible, has been accom¬ plished by the use of a completely synthetic diet, the protein moiety of which is a mix¬ ture of L-amino acids (Table 1). Treatment is instituted with complete omission of the branched chain-amino acids while the plasma amino acids are monitored frequently, every two or three days. As the level of each branched chain amino acid returns to normal, supplementation with that amino acid in the form of a pure solution is started. We prefer the use of the amino acid at this point to a natural food such as milk in order to provide the exact requirement of each amino acid rather than the fixed ratio present in food. After the plasma levels have become more stable, small quantities of milk are used to provide the necessary amounts of the Table 1.-Composition of the Synthetic Diet Component Amount (gm) Percentage of Total Calories L-amino acid mixture L-alanine
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