A Case of Lesch-Nyhan Syndrome Manifesting Only Chronic Gouty Arthritis without Neurologic Symptom
Journal of Rheumatic Diseases
;
: 192-195, 2014.
Article
in Korean
| WPRIM
| ID: wpr-190178
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Uric Acid
/
Arthritis, Gouty
/
Hyperuricemia
/
Hypoxanthine Phosphoribosyltransferase
/
Lesch-Nyhan Syndrome
/
Neurologic Manifestations
Type of study:
Diagnostic study
Limits:
Humans
Language:
Korean
Journal:
Journal of Rheumatic Diseases
Year:
2014
Type:
Article
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