Isoleucine Deficiency in a Neonate Treated for Maple Syrup Urine Disease Masquerading as Acrodermatitis Enteropathica

Background: Special diet with restricted branched-chain-amino-acids used for treating maple syrup urine disease can lead to specific amino acid deficiencies. Case characteristics: We report a neonate who developed skin lesions due to isoleucine deficiency while using specialised formula. Intervention/Outcome: Feeds were supplemented with expressed breast milk. This caused biochemical and clinical improvement with resolution of skin lesions. Message: Breast milk is a valuable and necessary adjunct to specialized formula in maple syrup urine disease to prevent specific amino acid deficiency in the neonatal period.