Glutaric aciduria type I: prenatal exclusion using GC-MS analysis of amniotic fluid and enzymology with oxidation of [6-14C]lysine.
作者： R. A. Chalmers , K. N. Cheng , N. R. English , M. A. Jones , W. Savage
DOI: 10.1007/BF01799231
关键词: Enzyme 、 Dehydrogenase 、 Glutaryl-CoA dehydrogenase 、 Glutaric aciduria 、 Amniotic fluid 、 Metabolic disorder 、 Lysine 、 Glutaric acid 、 Chemistry 、 Biochemistry
摘要: Glutaric aciduria type I (McKusick 23167), caused by deficiency of glutaryl-CoA dehydrogenase, is a severe autosomal recessively inherited metabolic disorder. We present here report the prenatal exclusion this disease use GC-MS analysis amniotic fluid and enzymology using an assay specific for based upon decarboxylation [6- 14 C] lysine
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