The disease is caused by a partial deficiency of the enzyme hypoxanthine phosphoribosyltransferase 1 encoded by the gene HPRT, which results in uric acid accumulation. The clinical picture is characterized by gout and uric acid kidney stones.
Uric acid nephropathy | ||||
Hyperuricemic nephropathy | ||||
Kelley-Seegmiller syndrome | ||||
HPRT1 | ||||
Lesch-Nyhan syndrome | ||||
Renal Hypouricemia | ||||
1. |
Kelley WN et al. (1967) A specific enzyme defect in gout associated with overproduction of uric acid. |
2. |
McDonald JA et al. (1971) Lesch-Nyhan syndrome: altered kinetic properties of mutant enzyme. |
3. |
Yü TF et al. (1972) Rarity of X-linked partial hypoxanthine-guanine phosphoribosyltransferase deficiency in a large gouty population. |
5. |
Srivastava T et al. (2002) Childhood hyperuricemia and acute renal failure resulting from a missense mutation in the HPRT gene. |
6. |
Andrés A et al. (1987) Partial deficit of hypoxanthine guanine phosphoribosyl transferase presenting as acute renal failure. |
7. |
Orphanet article Orphanet ID 79233 |
8. |
OMIM.ORG article Omim 300323 |
9. |
Wikipedia article Wikipedia EN (Lesch–Nyhan_syndrome) |