A Case of Lesch-Nyhan Syndrome Manifesting Only Chronic Gouty Arthritis without Neurologic Symptom.
10.4078/jrd.2014.21.4.192
- Author:
Yoomi YEO
1
;
Eun Young CHOI
;
Hyae Jin YOON
;
Sodam JUNG
;
Dam KIM
;
Seunghun LEE
;
Kyung Bin JOO
;
Jae Bum JUN
Author Information
1. Department of Internal Medicine, Hanyang University College of Medicine, Seoul, Korea. junjb@hanyang.ac,kr
- Publication Type:Case Report
- Keywords:
Lesch-Nyhan;
HPRT;
Secondary gout
- MeSH:
Arthritis, Gouty*;
Humans;
Hyperuricemia;
Hypoxanthine Phosphoribosyltransferase;
Lesch-Nyhan Syndrome*;
Neurologic Manifestations*;
Uric Acid
- From:Journal of Rheumatic Diseases
2014;21(4):192-195
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Deficiency of hypoxanthine-guanine phosphoribosyltransferase is a purine nucleotide disorder and is the most common genetic cause of uric acid overproduction. This disease has a wide range of spectrum with regard to neurological features depending on the extent of the enzymatic deficiency. Complete deficiency of hypoxanthine-guanine phosphoribosyltransferase, called Lesch-Nyhan syndrome, is presented with hyperuricemia and characteristic neurological manifestation and self-mutilation. Partial hypoxanthine-guanine phosphoribosyltransferase--deficient patients are presented with a various intensities of the aforementioned symptoms, from almost normal neurologic manifestation to a severe form along with hyperuricemia. We report a twenty-year-old man with complete hypoxanthine-guanine phosphoribosyltransferase mutation and Lesch-Nyhan sydrome, who manifested gouty arthritis without neurologic symptom.
