Which of the following X-linked condition presents as urolithiasis with gouty arthritis:
Correct Answer: Lesch nyhan syndrome
Description: 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.
Category:
Biochemistry
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