maple syrup urine disease/dijareja

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Acrodermatitis enteropathica-like eruption during treatment of maple syrup urine disease: report of one case.

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We describe a Chinese infant with maple syrup urine disease (MSUD) who had acrodermatitis enteropathica-like skin manifestations, edema, anemia, and diarrhea due to inadequate intake of branched-chain amino acids (BCAAs). A BCAA supplementation resulted in resolution of the eruption. This

Maple syrup urine disease--therapeutic use of insulin in catabolic states.

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High and neurotoxic blood levels of leucine and its ketoanalogue develop in catabolic patients with maple syrup urine disease. The use of relatively high doses of insulin and additional glucose had a more pronounced effect on lowering leucine (and alpha-ketoisocaproate) blood levels than dietary

Maple Syrup Urine Disease Complicated with Kyphoscoliosis and Myelopathy.

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Maple syrup urine disease (MSUD) is an autosomal recessive aminoacidopathy secondary to an enzyme defect in the catabolic pathway of the branched-chain amino acids (BCAAs: leucine, isoleucine, and valine). Accumulation of their corresponding keto-acids leads to encephalopathy if not treated in time.

[Acrodermatitis enteropathica-like syndrome secondary to branched-chain amino acid deficiency during treatment of maple syrup urine disease].

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BACKGROUND Clinical pictures resembling acrodermatitis enteropathica have been described in acquired zinc deficiency and deficiencies of other nutrients such as biotin, essential fatty acids and amino acids as well as biotin metabolism disorders. We describe the case of an infant with maple syrup

[Clinical analysis of organic acidemia in neonates from neonatal intensive care units].

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OBJECTIVE To study the clinical features of organic acidemia in neonates admitted to the intensive care unit. METHODS The clinical features of neonates from 15 neonatal intensive care units of Henan Province, who were diagnosed with congenital organic acidemia by gaschromatography-mass spectrometry

[Iatrogenic acrodermatitis enteropathica-like syndrome in leucinosis].

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BACKGROUND Leucinosis (maple syrup urine disease) is a metabolic disorder caused by an enzymatic deficiency involved in the degradative pathways of the three branched-chain amino acids. We report an observation of acrodermatitis enteropathica-like syndrome induced by essential amino acid deficiency

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