Introduction. Leucinosis (maple syrup urine disease) is a metabolic disorder c ausedbyanenzymatic deficiency involved in the degradative pathways of the three branched-chain amino acids. We report an observation of ac...Introduction. Leucinosis (maple syrup urine disease) is a metabolic disorder c ausedbyanenzymatic deficiency involved in the degradative pathways of the three branched-chain amino acids. We report an observation of acrodermatitis enteropa thica-like syndrome induced by essential amino acid deficiency in a child with leucinosis. Case report. A child with leucinosis was referred to our hospital fo r exfoliative dermatitis of the perioral and anogenital regions associated with diarrhea and pancytopenia. The diagnosis of iatrogenic acrodermatitis enteropath ica-like syndrome was confirmed after screening showing isoleucine deficiency. Rapid response was observed after adequate isoleucine supplementation. Discussio n. The acrodermatitis enteropathica-like eruption in our patient was due to an iatrogenic amino acid nutritional imbalance. Our observation underlines the risk of using a branched-chain amino acid-free formula without adequate supplement ation of deficient amino acids. In addition, dietary insufficiency of isoleucine , associated with the treatment of organic aciduria should be added to the cause s of acrodermatitis enteropathicalike syndrome.展开更多
文摘Introduction. Leucinosis (maple syrup urine disease) is a metabolic disorder c ausedbyanenzymatic deficiency involved in the degradative pathways of the three branched-chain amino acids. We report an observation of acrodermatitis enteropa thica-like syndrome induced by essential amino acid deficiency in a child with leucinosis. Case report. A child with leucinosis was referred to our hospital fo r exfoliative dermatitis of the perioral and anogenital regions associated with diarrhea and pancytopenia. The diagnosis of iatrogenic acrodermatitis enteropath ica-like syndrome was confirmed after screening showing isoleucine deficiency. Rapid response was observed after adequate isoleucine supplementation. Discussio n. The acrodermatitis enteropathica-like eruption in our patient was due to an iatrogenic amino acid nutritional imbalance. Our observation underlines the risk of using a branched-chain amino acid-free formula without adequate supplement ation of deficient amino acids. In addition, dietary insufficiency of isoleucine , associated with the treatment of organic aciduria should be added to the cause s of acrodermatitis enteropathicalike syndrome.
