This is a real-world medical entrance exam question, please give the true answer based on the question and selection. Topic name: Proteins and Amino Acids, Subject name: Biochemistry
Which of the following X-linked condition presents as urolithiasis with gouty arthritis: 
Select and explain. 
A. Holt oram syndrome, B. Lesch nyhan syndrome, C. SCID, D. Cystic fibrosis
B: Lesch nyhan syndrome
Answer: B: Lesch nyhan syndrome 
Explanation: 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.