Thiamine Response in Maple Syrup Urine Disease
作者:
PAUL FERNHOFF,
DEBORAH LUBITZ,
DEAN DANNER,
PHILLIP DEMBURE,
HANS SCHWARTZ,
RICHARD HILLMAN,
DENNIS BIER,
LOUIS ELSAS,
期刊:
Pediatric Research
(OVID Available online 1985)
卷期:
Volume 19,
issue 10
页码: 1011-1016
ISSN:0031-3998
年代: 1985
出版商: OVID
数据来源: OVID
摘要:
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 a-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 a-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.
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