NLM Logo

Lesch-Nyhan Syndrome MeSH Descriptor Data 2022


MeSH Heading
Lesch-Nyhan Syndrome
Tree Number(s)
C10.228.140.163.100.425
C10.597.606.360.455.625
C16.320.322.500.625
C16.320.400.525.625
C16.320.565.189.425
C16.320.565.798.594
C18.452.132.100.425
C18.452.648.189.425
C18.452.648.798.594
Unique ID
D007926
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D007926
Scope Note
An inherited disorder transmitted as a sex-linked trait and caused by a deficiency of an enzyme of purine metabolism; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE. Affected individuals are normal in the first year of life and then develop psychomotor retardation, extrapyramidal movement disorders, progressive spasticity, and seizures. Self-destructive behaviors such as biting of fingers and lips are seen frequently. Intellectual impairment may also occur but is typically not severe. Elevation of uric acid in the serum leads to the development of renal calculi and gouty arthritis. (Menkes, Textbook of Child Neurology, 5th ed, pp127)
Entry Term(s)
Choreoathetosis Self-Mutilation Hyperuricemia Syndrome
Choreoathetosis Self-Mutilation Syndrome
Complete HGPRT Deficiency Disease
Complete HPRT Deficiency
Complete Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency
Deficiency Disease, Complete HGPRT
Deficiency Disease, Hypoxanthine-Phosphoribosyl-Transferase
Deficiency of Guanine Phosphoribosyltransferase
Deficiency of Hypoxanthine Phosphoribosyltransferase
HGPRT Deficiency
HGPRT Deficiency Disease, Complete
Hypoxanthine Guanine Phosphoribosyltransferase 1 Deficiency
Hypoxanthine Guanine Phosphoribosyltransferase Deficiency
Hypoxanthine Phosphoribosyltransferase Deficiency
Hypoxanthine-Phosphoribosyl-Transferase Deficiency Disease
Juvenile Gout, Choreoathetosis, Mental Retardation Syndrome
Juvenile Hyperuricemia Syndrome
Lesch-Nyhan Disease
Primary Hyperuricemia Syndrome
Total HPRT Deficiency
Total Hypoxanthine-Guanine Phosphoribosyl Transferase Deficiency
X-Linked Hyperuricemia
X-Linked Primary Hyperuricemia
Previous Indexing
Athetosis (1966-1970)
Mental Retardation (1966-1970)
Purine-Pyrimidine Metabolism, Inborn Errors (1966-1970)
Self Mutilation (1966-1970)
See Also
Hypoxanthine Phosphoribosyltransferase
Public MeSH Note
1973
History Note
1973(1971)
Date Established
1973/01/01
Date of Entry
1999/01/01
Revision Date
2018/06/30
Lesch-Nyhan Syndrome Preferred
page delivered in 0.185s