Lesch-Nyhan syndrome immunologic studies

Several types of human mutants with hypoxanthine uanine phospho-ribosyltransferase defects have recently been identified (8, 41, 42). Cells from patients with the so-called Lesch-Nyhan syndrome have very low i4S) or undetectable activities of this enzyme, but immunological studies have demonstrated that the enzyme protein is made even when it is cata-lytically inactive 44)- In some patients with gout, 0.05 to 10% of normal activity remains isozymes (45) and other mutants (46) have also been detected. The structural gene for hypoxanthine-guanine phosphoribo-syltransferase is on the X chromosome, and mutations at this locus are, therefore, only fully expressed in males. 

IMMUNOLOGICAL STUDIES OF HYPOXANTHINE-GUANINE PHOSPHORIBOSYLTRANSFERASE IN LESCH-NYHAN SYNDROME... 

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