Abstract
The prenatal detection of hypoxanthine phosphoribosyltransferase (HPRT, EC 2.4.2.8) deficiency, the Lesch-Nyhan syndrome, during the first trimester of an affected pregnancy through the use of chorionic villus sampling is reported. Quantitation of reaction products formed by villus cell extracts from exogenous hypoxanthine-8-[14C] or adenine-8-[14C] is used in diagnosis. We report the diagnosis of Lesch-Nyhan syndrome using a chorionic villus specimen and confirmation of that diagnosis. In addition, adenosine deaminase (ADA) and purine nucleoside phosphorylase (PNP), enzymes deficient in inherited immune disorders, are detected in chorionic villus samples. These heritable disorders also appear amenable to early prenatal diagnosis.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Adenine / metabolism
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Adenine Phosphoribosyltransferase / metabolism
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Adenosine / metabolism
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Adenosine Deaminase / metabolism
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Adult
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Autoradiography
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Chorionic Villi / enzymology
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Female
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Humans
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Hypoxanthine
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Hypoxanthine Phosphoribosyltransferase / deficiency
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Hypoxanthines / metabolism
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Inosine / metabolism
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Lesch-Nyhan Syndrome / diagnosis*
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Lesch-Nyhan Syndrome / genetics
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Pregnancy
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Pregnancy Trimester, First
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Prenatal Diagnosis*
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Purine-Nucleoside Phosphorylase / metabolism
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Purine-Pyrimidine Metabolism, Inborn Errors / diagnosis
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Purines / metabolism
Substances
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Hypoxanthines
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Purines
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Hypoxanthine
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Inosine
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Purine-Nucleoside Phosphorylase
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Adenine Phosphoribosyltransferase
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Hypoxanthine Phosphoribosyltransferase
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Adenosine Deaminase
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Adenine
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Adenosine
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purine