Lesch-Nyhan syndrome and its pathogenesis: purine concentrations in plasma and urine with metabolite profiles in CSF

• Published in: Journal of inherited metabolic disease Vol. 11; no. 3; p. 239
• Main Authors: Harkness, R A, McCreanor, G M, Watts, R W
• Format: Journal Article
• Language: English
• Published: United States 01.09.1988
• Subjects: Allopurinol - therapeutic use; Child; Child, Preschool; Creatinine - urine; Female; Heterozygote; Humans; Hypoxanthine Phosphoribosyltransferase - metabolism; Hypoxanthines - urine; Infant; Infant, Newborn; Lesch-Nyhan Syndrome - drug therapy; Lesch-Nyhan Syndrome - genetics; Lesch-Nyhan Syndrome - metabolism; Male; Purines - metabolism; Uridine - blood; Uridine - cerebrospinal fluid; Xanthines - urine

Purine metabolism in the Lesch-Nyhan syndrome has been re-examined in 10 patients. Hypoxanthine and xanthine concentrations in plasma and CSF and urinary excretion have been studied, on and off allopurinol treatment, using high performance liquid chromatographic methods. Accumulation of the substrat...