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

酸血性肢端皮膚炎是一種與支鏈胺基酸代謝酵素缺乏有關的疾病，其皮膚表徵與腸病性肢端皮膚炎相似。我們報告－楓糖尿症患者發生酸血性肢端皮膚炎合併支鏈氨基酸缺乏的病例。一個兩個月大四千四百零二克排灣族男孩因嚴重腹瀉而被診斷出楓糖尿症。該病患因而開始餵食不含支鏈肢基酸的配方奶粉。然而在兩週後，他的臉上、頸部、生殖器肛門處、雙側肘窩及四肢出現漸進性輪廓鮮明紅色糜斕病灶及潮濕表面，而且在雙肩出現乾性皮屑。此外，也出現經常性軟便。血液檢查結果顯示三種必需支鏈肢基酸包含白胺酸，異白胺酸，頡胺酸皆低於正常值。在他的平日飲食中添加上述必需支鏈胺基酸，其臨床症狀在一週後逐漸改善。

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並列摘要

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 deficiency 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.

並列關鍵字

Acrodermatitis acidemica ； Branched chain amino acids ； Maple syrup urine disease

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

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