title: [Management of a case of maple syrup urine disease--the use of gluco-insulinotherapy].
abstract: We report here the treatment and poor outcome of a case of Maple Syrup Urine Disease with late diagnosis and retrieval (2 and 5 months, respectively). As the proband had quite high levels of plasmatic leucine (1956 micromol/L for a normal upper limit of 77), we started immediately with a gluco-insulin therapy to produce anabolism in the infant. When leucine has fallen to 275.3 micromol/L, we instituted feeding with branched chain amino acid-free protein and high energy from carbohydrates. After reviewing briefly the clinical, biochemical and therapeutic aspects of this disorder, we comment on the great difficulties of making early diagnosis and of obtaining the specific dietetic formulas to Maple Syrup Urine Disease, in Brazil.
authors.affiliation: Unidade de Genética Médica, Serviço de Pediatria, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS.
authors.forename: L B
authors.initials: LB
authors.lastname: Jardim
authors.forename: C S
authors.initials: CS
authors.lastname: Martins
authors.forename: R F
authors.initials: RF
authors.lastname: Pires
authors.forename: M T
authors.initials: MT
authors.lastname: Sanseverino
authors.forename: L
authors.initials: L
authors.lastname: Refosco
authors.forename: R de C
authors.initials: Rde C
authors.lastname: Vieira
authors.forename: E de A
authors.initials: Ede A
authors.lastname: Trotta
authors.forename: C
authors.initials: C
authors.lastname: Vargas
authors.forename: E C
authors.initials: EC
authors.lastname: Neto
authors.forename: R
authors.initials: R
authors.lastname: Giugliani