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  • 1
    ISSN: 1432-1076
    Keywords: Maple syrup urine disease ; emergency treatment ; Exchange transfusion ; Neonatal period ; Calorie intake
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Three patients with maple syrup urine disease were treated during the acute neonatal stage. Multiple exchange transfusions proved to be a satisfactory means of achieving rapid clinical and biochemical improvement during this phase. 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. 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. It is assumed that this high calorie intake is necessary to prevent the breakdown of endogenous protein. 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. by multiple exchange transfusions or peritoneal dialysis), but in addition should provide a high calorie intake.
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1432-1076
    Keywords: Screening ; Neonatal mass screening ; Metabolic disorders ; Hypothyroidism ; Hyperphenylalaninaemia ; Galactosaemia ; Maple syrup urine disease ; Adrenogenital syndrome ; Cystic fibrosis ; Duchenne's muscular dystrophy ; Histidinaemia ; Hypermethioninaemia ; Tyrosinaemia ; Haemoglobinopathies ; Glucose-6-phosphate dehydrogenase deficiency
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The present situation of neonatal mass screening for metabolic disorders in eleven European countries is presented. The only disease screened for on a population wide basis in almost all countries is phenylketonuria. Screening for congenital hypothyroidism has been started in most countries or is under active consideration. A priority list of disorders that should be screened for routinely in all newborns comprises congenital hypothyroidism, hyperphenylalaninaemia, galactosaemia and maple syrup urine disease. Other disorders, like adrenogenital syndrome, cystic fibrosis. Duchenne's muscular dystrophy, histidinaemia, or tyrosinaemia cannot be recommended for mass screening at present because of an unsatisfactory test procedure or lack of effective treatment.
    Type of Medium: Electronic Resource
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