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An atypical case of hypoxanthine‐guanine phosphoribosyltransferase deficiency (Lesch‐Nyhan syndrome)
Author(s) -
Bruyn C. H. M. M. DE,
Oei T. L.,
Geerdink R. A.,
Lommen E. J. P.
Publication year - 1973
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1973.tb01931.x
Subject(s) - lesch–nyhan syndrome , hypoxanthine guanine phosphoribosyltransferase , psychomotor retardation , phosphoribosyltransferase , hypoxanthine phosphoribosyltransferase , genetic linkage , genetics , medicine , endocrinology , biology , gene , pathology , alternative medicine , mutant
Complete HG‐PRT deficiency was established by means of direct enzyme assay and autoradiography in a patient with relatively little, if any, of the neurological and psychomotor symptoms of the Lesch‐Nyhan syndromes. Family study revealed two other HG‐PRT negative males. Hair root analysis was used for carrier detection. Linkage study produced no evidence of close linkage between Xga and HG‐PRT loci.