Molecular Mechanisms of the Second Female Lesch-Nyhan Patient
Lesch-Nyhan syndrome is an X linked recessive disorder characterized by hyperuricemia, physical and mental retardation, choreoathetosis, and compulsive self-mutilation. 1 This disease is associated with the absence of activity of an enzyme involved in purine metabolism, namely hypoxanthine guanine phosphoribosyltransferase (HPRT, EC 126.96.36.199).2 HPRT locus is on long arm of X chromosome, q26 and because of inability of reproduction in Lesch-Nyhan patient, this disorder occurs only in males. We have, however, two unusual cases of female Lesch-Nyhan patients.
KeywordsPyrimidine Metabolism HPRT Gene mRNA Turnover Adenine Phosphoribosyltransferase Normal mRNA
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