Acrodermatitis Acidemica Associated with Defi ciency of Branched Chain Amino Acids in Maple Syrup Urine Disease -A Case Report and Review of the Literature

Acrodermatitis acidemica is a form of various enzyme defects involving the metabolism of branched-chain amino acids (BCAAs) along with cutaneous features reminiscent of acrodermatitis enteropathica. We report a case of acrodermatitis acidemica associated with a defi ciency of BCAAs in maple syrup urine disease. This 2-month-old 4402-gram in weight Paiwanese boy, an aboriginal Taiwanese, was diagnosed as having maple syrup urine disease by severe diarrhea being the main determining factor. A special milk formula free from BCAAs was used since diagnosis. Two weeks later, he began to suffer from progressive sharply demarcated erythematous erosions with weeping surface over his face, neck, anogenital area, bilateral antecubital fossae and four extremities as well as dry desquamation over the bilateral shoulders. In addition, frequent loose stool passages were noted. Blood examinations revealed that the level of the three essential BCAAs, including leucine, isoleucine, and valine were all below the normal limits. Improvement of the skin rash was observed after adding the above-mentioned essential BCAAs in his ordinary diet for 1 week. (Dermatol Sinica 27: 122-127, 2009)