Your browser doesn't support javascript.
loading
Thiamine response in maple syrup urine disease.
Pediatr Res ; 19(10): 1011-6, 1985 Oct.
Article em En | MEDLINE | ID: mdl-3903643
We measured the biochemical response for four patients with maple syrup disease to pharmacologic doses of thiamine, and correlated their response to their branched chain alpha-ketoacid dehydrogenase activity. We observed a linear correlation between the concentrations of each plasma branched-chain amino acid and its corresponding ketoacid analogue. In addition, the renal tubular reabsorption of branched-chain amino and ketoacids was nearly complete within these physiologic concentrations. Three children responded to thiamine therapy with a reduction in concentration of plasma and urinary branched-chain amino and ketoacids. Each responder had at least 5% activity for branched chain alpha-ketoacid dehydrogenase in their mononuclear blood cells and in whole cell fibroblasts from cultured skin when compared to the activity in normal control cells. We propose that each child with maple syrup urine disease be assessed for their response to thiamine by quantifying the concentration of branched-chain amino acids in plasma before and after vitamin supplementation.
Assuntos
Buscar no Google
Bases de dados: MEDLINE Assunto principal: Tiamina / Doença da Urina de Xarope de Bordo Limite: Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Pediatr Res Ano de publicação: 1985 Tipo de documento: Article
Buscar no Google
Bases de dados: MEDLINE Assunto principal: Tiamina / Doença da Urina de Xarope de Bordo Limite: Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Pediatr Res Ano de publicação: 1985 Tipo de documento: Article