Acrodermatitis enteropathica-like syndrome secondary to isoleucine deficiency during treatment of maple syrup urine disease

G. P. Giacoia and G. T. Berry
Department of Pediatrics, University of Oklahoma College of Medicine, Tulsa 74136.

We describe a patient with maple syrup urine disease in whom an acrodermatitis enteropathica-like syndrome developed while he was receiving a branched-chain amino acid-free formula. Iatrogenically induced isoleucine deficiency developed and resulted in a decreased protein accretion and persistent increase in the plasma concentrations of leucine. A rapid clinical response to isoleucine supplementation was noted. This observation underscores the risks of using amino acid-free formulas without adequate supplementation of deficient amino acids.