Prenatal diagnosis of Lesch-Nyhan syndrome: experience with three fetuses at risk.
Our experience with the prenatal detection of the Lesch-Nyhan syndrome (LNS; hypoxanthine-guanine phosphoribosyltransferase (HGPRT) deficiency) in three fetuses at risk is reported. Enzyme activities were measured in cultured amniocytes in two pregnancies, and in tissues and cultures obtained from chorionic villus sampling (CVS) in a third pregnancy. In all tissues the specific activities of HGPRT and adenine phosphoribosyltransferase (APRT) were determined and APRT/HGPRT ratios were calculated. In addition to the enzyme assays, the rate of purine synthesis de novo was assessed in the two amniocyte cultures, and the rate of [14C]hypoxanthine incorporation into nucleotides and sensitivity to azaguanine were measured in one of the amniocyte cultures. We report the diagnosis of normal fetuses by study of amniocytes in two pregnancies and of LNS using CVS in one pregnancy. In all three cases the diagnosis was confirmed.
Zoref-Shani
E
E
Department of Chemical Pathology, Sackler Faculty of Medicine, Tel Aviv University, Israel.
Bromberg
Y
Y
Goldman
B
B
Shaki
R
R
Barkai
G
G
Legum
C
C
Sperling
O
O
D000228:Adenine Phosphoribosyltransferase / Q000378:metabolism; D000653:Amniotic Fluid / Q000201:enzymology; D001375:Azaguanine / Q000494:pharmacology; D001921:Brain / Q000201:enzymology; D002824:Chorionic Villi / Q000201:enzymology; D015193:Chorionic Villi Sampling; D005260:Female; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000378:metabolism; D007926:Lesch-Nyhan Syndrome / Q000175:diagnosis*; D009132:Muscles / Q000201:enzymology; D011247:Pregnancy; D011296:Prenatal Diagnosis; D011687:Purines / Q000378:metabolism; D012867:Skin / Q000201:enzymology
D011687:Purines; D000228:Adenine Phosphoribosyltransferase; D007041:Hypoxanthine Phosphoribosyltransferase; D001375:Azaguanine