md90
04-26-2006, 03:05 PM
baby is normal at birth, but begins to show: delay in motor development by three months; at 1 year, develop spascity and writhing movements; at 3years, compulsive biting of fingers and lips and head-banging; at puberty, develops arthritis, and death from the renal failure at age 25; what is the biochemical pathway that is responsible?
Purine Metabolism...
child has classic Lesch-Nylan Syndrome, x-linked with the severe deficiency of purine salvage enzyme: hypoxanthine-guanine phosphoribosyl transferase (HPRT); also associated with excessive purine synthesis, hyperuricemia and the clinical S/S described above; treatment is allopurinol BUT is good for the gouty arthritis, urate stone formation, and urate nephropathy.. it does not help with neurologic/psychiatric presentation.
Purine Metabolism...
child has classic Lesch-Nylan Syndrome, x-linked with the severe deficiency of purine salvage enzyme: hypoxanthine-guanine phosphoribosyl transferase (HPRT); also associated with excessive purine synthesis, hyperuricemia and the clinical S/S described above; treatment is allopurinol BUT is good for the gouty arthritis, urate stone formation, and urate nephropathy.. it does not help with neurologic/psychiatric presentation.