A pitfall in the prenatal diagnosis of Lesch-Nyhan syndrome by chorionic villus sampling.
The ratio of the activities of catabolic enzymes such as 5'-nucleotidase and purine nucleoside phosphorylase to that of hypoxanthine-guanine phosphoribosyltransferase (HPRT) may be much higher in frozen or cultured chorionic villus cells than in cultured amniotic fluid cells, cultured fibroblasts, or red blood cells. Consequently, unless these catabolic activities are controlled the observed activity of HPRT may be greatly decreased, and a false diagnosis of Lesch-Nyhan syndrome may result. For a reliable diagnosis, the reaction products of HPRT must be protected from catabolism.
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Department of Pediatrics, University of California, San Diego, La Jolla 92093.
Broock
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D000228:Adenine Phosphoribosyltransferase / Q000378:metabolism; D000653:Amniotic Fluid / Q000378:metabolism; D002478:Cells, Cultured; D002824:Chorionic Villi / Q000378:metabolism; D015193:Chorionic Villi Sampling; D005189:False Positive Reactions; D005260:Female; D005615:Freezing; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000378:metabolism; D007926:Lesch-Nyhan Syndrome / Q000175:diagnosis*; D011247:Pregnancy; D011309:Preservation, Biological
D000228:Adenine Phosphoribosyltransferase; D007041:Hypoxanthine Phosphoribosyltransferase