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Treatment

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

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Immediate treatment is aimed at removing the branched chain amino acids and their metabolites from the tissues and body fluids, which is best effected with peritoneal dialysis. Treatment of hydration or hypoglycaemia does not resolve the problem

Long term treatment is with a low branched-chain amino acid diet.

Note that a condition resembling acrodermatitis enteropathica occurs in affected infants whose plasma isoleucine levels are low. Addition of isoleucine to the diet causes a rapid and complete recovery.


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