Prenatal diagnosis of non-ketotic hyperglycinemia.
We describe successful prenatal diagnosis in four pregnancies at risk for non-ketotic hyperglycinemia, two affected and two unaffected, using the glycine level and the glycine/serine ratio in amniotic fluid obtained at 16 weeks gestational age. Although this method of prenatal diagnosis for non-ketotic hyperglycinemia has been effective in our hands the narrow differences between affected and unaffected pregnancies indicate the need for caution concerning its reliability.
D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis / Q000235:genetics*; D000649:Amniocentesis; D005260:Female; D005998:Glycine / Q000032:analysis / Q000097:blood* / Q000134:cerebrospinal fluid; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012306:Risk; D012694:Serine / Q000032:analysis
D012694:Serine; D005998:Glycine