<prompt> Which of the following X-linked condition presents as urolithiasis with gouty arthritis:Holt oram syndromeLesch nyhan syndromeSCIDCystic fibrosis  <response>: Ans. b Lesch nyhan syndromeRef: Harrisons 20th ed. P 3001Lesch Nyhan Syndrome XLR condition Occurs due to complete deficiency of HGPRTase enzyme - accumulation of purine Degradation of purine - Increased uric acid The syndrome is characterized by hyperuricemia, nephrolithiasis, obstructive uropathy, self-mutilative behavior, choreoathetosis, spasticity, and mental retardation. Partial deficiency of HGPRTase enzyme - Kelley-Seegmiller syndrome. Associated with hyperuricemia, nephrolithiasis, obstructive uropathy but no central nervous system manifestations. 