Antenatal diagnosis of glutaric acidemia.
Two pregnancies at risk for glutaric acidemia were monitored. In one, in which the fetus was not affected, glutaric acid was not detected in the amniotic fluid at amniocentesis (15 weeks) and the glutaryl-CoA dehydrogenase activity of cultured amniotic cells was normal. In the other, a marked elevation of glutaric acid in the amniotic fluid, together with deficiency of glutaryl-CoA dehydrogenase in amniotic cells, prompted termination of the pregnancy, and studies on the abortus confirmed the diagnosis of glutaric acidemia. Glutaric acidemia, is, thus, another inborn error of metabolism which can be diagnosed in utero.
D000214:Acyl Coenzyme A / Q000172:deficiency; D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics*; D000649:Amniocentesis; D000653:Amniotic Fluid / Q000032:analysis / Q000166:cytology; D002478:Cells, Cultured; D005260:Female; D005977:Glutarates / Q000032:analysis / Q000172:deficiency / Q000378:metabolism*; D050770:Glutaryl-CoA Dehydrogenase; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010088:Oxidoreductases / Q000172:deficiency*; D044925:Oxidoreductases Acting on CH-CH Group Donors; D011247:Pregnancy; D011296:Prenatal Diagnosis
D000214:Acyl Coenzyme A; D005977:Glutarates; D010088:Oxidoreductases; D044925:Oxidoreductases Acting on CH-CH Group Donors; D050770:Glutaryl-CoA Dehydrogenase