Hyperuricaemia associated with 18q deletion. Atypical Lesch-Nyhan syndrome?
The existence of a clinically typical Lesch-Nyhan syndrome was observed in a male infant with 18q deletion syndrome. Indirect hypoxanthine-guanine-phosphoribosyl transferase activity determination demonstrated a normal value, and thus the possibility of Lesch-Nyhan syndrome linked to the X-chromosome may be excluded. It is assumed that the uric acid metabolism must be under the primary or secondary effect of one or other of the gene loci on the long arm of chromosome 18, since the existence off a hyperuricaemic syndrome was observed in this 18q deletion patient.
D002872:Chromosome Deletion; D002902:Chromosomes, Human, 16-18; D003937:Diagnosis, Differential; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000097:blood; D007231:Infant, Newborn; D007926:Lesch-Nyhan Syndrome / Q000175:diagnosis*; D008214:Lymphocytes / Q000201:enzymology; D008297:Male; D014527:Uric Acid / Q000097:blood*
D014527:Uric Acid; D007041:Hypoxanthine Phosphoribosyltransferase