Prenatal exclusion of purine nucleoside phosphorylase deficiency.
We report on the prenatal exclusion of purine nucleoside phosphorylase (PNP) deficiency in a fetus whose parents were known to be heterozygotes for the enzyme defect. Prenatal investigation was performed in the 16th week of gestation on amniotic fluid and cultured amnion cells using sensitive techniques. The results suggested that the fetus was either normal or a heterozygote. PNP activity in cord red cells confirmed the heterozygous status of the baby.
D000328:Adult; D000650:Amnion / Q000201:enzymology; D000653:Amniotic Fluid / Q000201:enzymology; D004912:Erythrocytes / Q000201:enzymology; D005260:Female; D005312:Fetal Blood / Q000201:enzymology; D005865:Gestational Age; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000175:diagnosis; D007231:Infant, Newborn; D008297:Male; D010430:Pentosyltransferases / Q000172:deficiency*; D011247:Pregnancy; D011296:Prenatal Diagnosis; D011683:Purine-Nucleoside Phosphorylase / Q000032:analysis / Q000097:blood / Q000172:deficiency*; D012016:Reference Values
D010430:Pentosyltransferases; D011683:Purine-Nucleoside Phosphorylase