Preventive Control of the Lesch‐Nyhan Syndrome
作者:
P. VAN HEESWIJK,
C. BLANK,
J. SEEGMILLER,
C. JACOBSON,
期刊:
Obstetrics & Gynecology
(OVID Available online 1972)
卷期:
Volume 40,
issue 1
页码: 109-113
ISSN:0029-7844
年代: 1972
出版商: OVID
数据来源: OVID
摘要:
A second case is reported in which Lesch-Nyhan syndrome was diagnosed prenatally, pregnancy terminated and the enzyme deficiency in fetal tissues confirmed. A micromethod for H-PRT determination, which could make earlier prenatal diagnosis possible, has been applied to demonstrate the enzyme deficiency in cultured amniotic cells. In contrast to an earlier report, measurable amounts of H-PRT activity were found in the tissues of the affected fetus. The possibility of using the ratio of uric acid to creatinine in amniotic fluid as additional evidence in prenatal diagnosis of the Lesch-Nyhan syndrome is discussed.
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