Corneal deepithelialization caused by acute deficiency of isoleucine during treatment of a patient with maple syrup urine disease.

Classical Maple Syrup Urine Disease is a serious, autosomal recessive and rare metabolic disorder due to a completely inactive enzyme complex for metabolizing the branched amino acids leucine, valine and isoleucine. If untreated the disease is lethal. Metabolic control achieved by strict dietary treatment results in normal development. In this paper we describe deepithelialization of the cornea together with skin and intestinal symptoms as the result of isolated deficiency of isoleucine during treatment of a critically ill, newborn infant with this unusual disease.