Which of the following X-linked condition presents as urolithiasis with gouty arthritis:
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.
Holt oram syndrome
Lesch nyhan syndrome
SCID
Cystic fibrosis
Proteins and Amino Acids