[Prenatal diagnosis of Lesch-Nyhan syndrome].
A pregnant woman with Lesch-Nyhan's syndrome (hypoxanthine-guanine-phosphoribosyltransferase, or HGPRT deficiency) requested antenatal diagnosis. HGPRT and adenine phosphoribosyltransferase (APRT) activities were measured in fetal erythrocytes by funiculocentesis in the 21st gestational week. HGPRT activity was lower than 0.01 mmol/h/Hb g (normal value 87.0 +/- 16.05 mmol/h/Hb g). APRT activity was increased (44.0 mmol/h/Hb g) as compared with that from 50 normal individuals (28.1 +/- 6.9 mmol/h/Hb g). Pregnancy was interrupted and the antenatal diagnosis of Lesch-Nyhan's syndrome was confirmed after delivery. In the 20th gestational week, amniotic fluid showed a marked increase if oxypurines (hypoxanthine, xanthine and uric acid) as compared with the values in 14 amniotic fluids from normal pregnancies and gestational age within 15-22 weeks. The present study illustrates the possibility to make the antenatal diagnosis of Lesch-Nyhan's syndrome by funiculocentesis . The previously unreported finding of a marked abnormality of oxypurine concentration in amniotic fluid represents a new outlook for the diagnosis of enzymatic defects of synthesis and degradation of purine nucleotides.
Mateos Antón
F
F
Servicio de Bioquímica, Hospital La Paz, Universidad Autónoma, Madrid.
García Puig
J
J
Ramos Hernández
T
T
López Jiménez
M
M
Romera Menoyo
N
N
D000328:Adult; D000649:Amniocentesis; D000653:Amniotic Fluid / Q000032:analysis; D005192:Family Health; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis*; D006801:Humans; D007042:Hypoxanthines / Q000032:analysis; D007926:Lesch-Nyhan Syndrome / Q000175:diagnosis* / Q000201:enzymology; D010375:Pedigree; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods; D014527:Uric Acid / Q000032:analysis; D014970:Xanthines / Q000032:analysis
D007042:Hypoxanthines; D014970:Xanthines; D014527:Uric Acid
Diagnóstico prenatal del síndrome de Lesch-Nyhan.