Phosphoribosylpyrophosphate synthetase superactivity
Última actualización 10 Nov 2023
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Phosphoribosylpyrophosphate synthetase superactivity (PRS superactivity) is characterised by the overproduction and accumulation of uric acid (a waste product of normal chemical processes) in the blood and urine. The overproduction of uric acid can lead to gout, which is arthritis caused by an accumulation of uric acid crystals in the joints. Individuals with PRS superactivity also develop kidney or bladder stones that may result in episodes of acute kidney failure.
Descripción
Phosphoribosylpyrophosphate synthetase superactivity (PRS superactivity) is characterised by the overproduction and accumulation of uric acid (a waste product of normal chemical processes) in the blood and urine. The overproduction of uric acid can lead to gout, which is arthritis caused by an accumulation of uric acid crystals in the joints. Individuals with PRS superactivity also develop kidney or bladder stones that may result in episodes of acute kidney failure.
There are two forms of PRS superactivity, a severe form that begins in infancy or early childhood, and a milder form that typically appears in late adolescence or early adulthood. In both forms, a kidney or bladder stone is often the first symptom. Gout and impairment of kidney function may develop if the condition is not adequately controlled with medication and dietary restrictions. People with the severe form may also have neurological problems, including hearing loss caused by changes in the inner ear (sensorineural hearing loss), weak muscle tone (hypotonia), impaired muscle coordination (ataxia), and developmental delay.
Patrones de herencia
The source lists the following possible inheritance patterns: X-linked dominant. More than one pattern can apply in different cases.
Related genes
Otros nombres
Gout, PRPS-related
PRPP synthetase overactivity
PRPP synthetase superactivity
PRPS1 superactivity
PRS overactivity
PRS superactivity
Lecturas adicionales y referencias
- Phosphoribosylpyrophosphate synthetase superactivity; MedlinePlus, National Library of Medicine.
- Almoguera B, He S, Corton M, Fernandez-San Jose P, Blanco-Kelly F, Lopez-Molina MI, Garcia-Sandoval B, Del Val J, Guo Y, Tian L, Liu X, Guan L, Torres RJ, Puig JG, Hakonarson H, Xu X, Keating B, Ayuso C. Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy. Orphanet J Rare Dis. 2014 Dec 10;9:190. doi: 10.1186/s13023-014-0190-9.
- Camici M, Garcia-Gil M, Allegrini S, Pesi R, Bernardini G, Micheli V, Tozzi MG. Inborn Errors of Purine Salvage and Catabolism. Metabolites. 2023 Jun 24;13(7):787. doi: 10.3390/metabo13070787.
- de Brouwer APM, Christodoulou J. Phosphoribosylpyrophosphate Synthetase Superactivity. 2008 Sep 23 [updated 2022 Feb 17]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1973/
- Nyhan WL. Disorders of purine and pyrimidine metabolism. Mol Genet Metab. 2005 Sep-Oct;86(1-2):25-33. doi: 10.1016/j.ymgme.2005.07.027.
- Porrmann J, Betcheva-Krajcir E, Di Donato N, Kahlert AK, Schallner J, Rump A, Schrock E, Dobritzsch D, Roelofsen J, van Kuilenburg ABP, Tzschach A. Novel PRPS1 gain-of-function mutation in a patient with congenital hyperuricemia and facial anomalies. Am J Med Genet A. 2017 Oct;173(10):2736-2742. doi: 10.1002/ajmg.a.38359. Epub 2017 Jul 25.
- Zikanova M, Wahezi D, Hay A, Stiburkova B, Pitts C 3rd, Musalkova D, Skopova V, Baresova V, Souckova O, Hodanova K, Zivna M, Stranecky V, Hartmannova H, Hnizda A, Bleyer AJ, Kmoch S. Clinical manifestations and molecular aspects of phosphoribosylpyrophosphate synthetase superactivity in females. Rheumatology (Oxford). 2018 Jul 1;57(7):1180-1185. doi: 10.1093/rheumatology/key041.
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