[Report of a patient with Lesch-Nyhan syndrome caused by total deficiency of HGPRT and with normal activity in female family members].
Authors present a 10 year old boy with Lesch-Nyhan syndrome with self-inflicted mutilations to the lips, tongue and interior cheek wall, partially avoided by tooth extraction. Hand lesions were prevented by arm restriction. Born with anoxia and in spite of seizures for several years and a marked muscle stiffness, he is relatively aware of his surroundings. HGPRT activity in blood and hair was nil, while the APRT activity was increased. The mother, a maternal aunt and grandmother are not carriers. Hyperuricemia measured several times and treated with allopurinol is kept between 3 and 4 mg/dl and lastly under 3 mg after increasing dosage. Some years ago, elimination of acid uric stones in urine was observed without hematuria. It seems that recently stone elimination produced pain difficult to evaluate in this patient.
D000228:Adenine Phosphoribosyltransferase / Q000032:analysis; D000328:Adult; D002648:Child; D004912:Erythrocytes / Q000201:enzymology; D005260:Female; D006197:Hair / Q000201:enzymology; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000172:deficiency* / Q000235:genetics; D007926:Lesch-Nyhan Syndrome / Q000201:enzymology / Q000235:genetics*; D008297:Male; D009154:Mutation; D012737:Sex Factors
D000228:Adenine Phosphoribosyltransferase; D007041:Hypoxanthine Phosphoribosyltransferase
Observación de un paciente con síndrome de Lesch-Nyhan por déficit total de HGPRT y actividad normal en las hembras de la familia.