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Lesson from the Lesch-Nyhan syndrome

✍ Scribed by R.W.E. Watts


Book ID
119117341
Publisher
Elsevier Science
Year
1978
Tongue
English
Weight
470 KB
Volume
1
Category
Article
ISSN
0166-2236

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πŸ“œ SIMILAR VOLUMES


The Lesch-Nyhan syndrome
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Metabolic studies in a case of Lesch-Nyhan syndrome are presented. De novo synthesis of purine was shown to be inhibited upon adenine administration. The excretion of oxypurines is elevated, however, by an increased incorporation of the administered adenine into purine bases. A side effect of adenin

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De$ciency of the enzyme hypoxanthineguanine phosphoribosyltransferase (HPRT) in humans leads to the neurological disorder, Lesch-Nyhan syndrome. HPRTcDNA sequences have been used to demonstrate a heterogeneous group of mutations causing this disorder, one of which is clearly a new mutation. HPRT ex

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