G.: Dietary treatment of a child with maple syrup urine disease (branched chain ketoaciduria). G., Dancis, J., Miller, S.: Maple syrup urine disease. W., Passarge, E., Mikkelsen, M.: Maple syrup urine disease: Rapid prenatal diagnosis by enzyme assay. W., Gompertz, D.: Family with intermittent maple syrup urine disease. Lancaster, Lancs: Medical and Technical Publishing Co. In: The treatment of inherited metabolic disease, D. E.: The therapy of maple syrup urine disease. E.: Maple syrup urine disease, with particular reference to dietotherapy. L., Mackenzie, S., Delvin, E.: Thiamine responsive maple syrup urine disease. Schuchmann, L., Witt, I., Schulz, P., Schuhmacher, H., Rüdiger, H.: Multiple exchange transfusions as treatment during the acute period in maple syrup urine disease. Saudubray, J.-M., Fournet, J.-P., Cloup, M.: Intérêt de la dialyse péritonéale dans le traitment d'urgence des maladies métaboliques d'origine constitutionelle révélées dans la période néonatale.
Sander, C., Clotten, R., Noetzel, H., Wehinger, H.: Zur Klinik und pathologischen Anatomie der Ahornsirupkrankheit (branched chain ketoaciduria). E., Cottom, D.: Peritoneal dialysis in maple syrup urine disease. Rey, F., Rey, J., Cloup, M., Féron, J.-F., Doré, F., Labrune, B., Frézal, J.: Traitment d'urgence d'une forme aigue de leucinose par dialyse peritoneale. Müller, H., Bickel, H., Feist, D., Lutz, P.: Ahornsirupkrankheit mit intermittierendem, relativ gutartigem Verlauf. A.: Clinical and biochemical observations on an apparently nonfatal variant of branched chain ketoaciduria (maple syrup urine disease). H.: Maple syrup urine disease: isolation and identification of organic acids in the urine.
M.: A new syndrome: progressive familial infantile cerebral dysfunction associated with an unusual urinary substance. I.: Maple syrup urine disease: an inborn error of the metabolism of valine, leucine, and isoleucine associated with gross mental deficiency. W., Wendel, U.: Maple syrup urine disease variant: report of an infant. Kiil, R., Rokkones, T.: Late manifesting variant of branched chain ketoaciduria (maple syrup urine disease). R.: Infection in maple syrup urine disease. I., Pollak, S., Miles, B., O'Brien, D.: The treatment of maple syrup urine disease. W., Langenbeck, U., Brackertz, D., Keller, W., Rokkones, T., Halvorsen, S., Kiil, R., Merton, B.: Clinical and biochemical-genetic aspects of intermittent branched chain ketoaciduria. E.: Pathogenesis of maple syrup urine disease: Observations during dietary management and treatment of coma by peritoneal dialysis. Chicago: The University of Chicago Press 1972 P.: Enzyme activity in classical and variant forms of maple syrup urine disease. New York: MeGraw Hill 1972ĭancis, J., Hutzler, J., Snyderman, S. In: The metabolic basis of inherited disease, J. Pediatrics 25, 72–79 (1960)ĭancis, J., Levitz, M.: Abnormalities of branched chain amino acid metabolism. G.: Maple syrup urine disease: branched chain keto aciduria. by multiple exchange transfusions or peritoneal dialysis), but in addition should provide a high calorie intake.Ĭhemke, J., Levin, S.: Maple syrup urine disease. Treatment of acute episodes in maple syrup urine disease should therefore not only eliminate the elevated alpha-keto acids and branched chain amino acids quickly (i.e. It is assumed that this high calorie intake is necessary to prevent the breakdown of endogenous protein. As long as this calorie intake was not provided, further exchange transfusions failed to lower the plasma leucine concentration to below 17 mg/100 ml in one patient. On the other hand, evidence is provided suggesting that in addition to exchange transfusions, a high calorie intake above 150 Cal/kg body weight/day is necessary to lower the plasma concentration of the branched chain amino acids to near-normal levels. Multiple exchange transfusions proved to be a satisfactory means of achieving rapid clinical and biochemical improvement during this phase. Three patients with maple syrup urine disease were treated during the acute neonatal stage.
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