Glutaric aciduria type I: prenatal exclusion using GC-MS analysis of amniotic fluid and enzymology with oxidation of [6-14C]lysine.
1989
Glutaric aciduria type I (McKusick 23167), caused by deficiency of glutaryl-CoA dehydrogenase, is a severe autosomal recessively inherited metabolic disorder. We present here a report of the prenatal exclusion of this disease by use of GC-MS analysis of amniotic fluid and enzymology using an assay specific for glutaryl-CoA dehydrogenase, based upon the decarboxylation of [6- 14 C] lysine
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