Structured Summary
Abstract
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)
MeSH Record
Classification
Related Concepts
Knowledge Graph
Drag nodes to rearrange; hover to trace links; click a node to open its page.
MeSH Record
See Also
MeSH Record
Synonyms
80 entry terms
- 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
- Choreoathetosis Self Mutilation Hyperuricemia Syndrome
- Choreoathetosis Self Mutilation Syndrome
- Choreoathetosis Self-Mutilation Syndromes
- Complete HPRT Deficiencies
- Complete Hypoxanthine Guanine Phosphoribosyltransferase Deficiency
- Deficiencies, Complete HPRT
- Deficiencies, HGPRT
- Deficiencies, Hypoxanthine Phosphoribosyltransferase
- Deficiencies, Total HPRT
- Deficiency Disease, Hypoxanthine Phosphoribosyl Transferase
- Deficiency Diseases, Hypoxanthine-Phosphoribosyl-Transferase
- Deficiency, Complete HPRT
- Deficiency, HGPRT
- Deficiency, Hypoxanthine Phosphoribosyltransferase
- Deficiency, Total HPRT
- Guanine Phosphoribosyltransferase Deficiencies
- Guanine Phosphoribosyltransferase Deficiency
- HGPRT Deficiencies
- HPRT Deficiencies, Complete
- HPRT Deficiencies, Total
- HPRT Deficiency, Complete
- HPRT Deficiency, Total
- Hyperuricemia Syndrome, Juvenile
- Hyperuricemia Syndrome, Primary
- Hyperuricemia Syndromes, Juvenile
- Hyperuricemia Syndromes, Primary
- Hyperuricemia, X-Linked
- Hyperuricemia, X-Linked Primary
- Hyperuricemias, X-Linked
- Hyperuricemias, X-Linked Primary
- Hypoxanthine Phosphoribosyl Transferase Deficiency Disease
- Hypoxanthine Phosphoribosyltransferase Deficiencies
- Hypoxanthine-Phosphoribosyl-Transferase Deficiency Diseases
- Juvenile Hyperuricemia Syndromes
- Lesch Nyhan Disease
- Lesch Nyhan Syndrome
- Phosphoribosyltransferase Deficiencies, Guanine
- Phosphoribosyltransferase Deficiencies, Hypoxanthine
- Phosphoribosyltransferase Deficiency, Guanine
- Phosphoribosyltransferase Deficiency, Hypoxanthine
- Primary Hyperuricemia Syndromes
- Primary Hyperuricemia, X-Linked
- Primary Hyperuricemias, X-Linked
- Self-Mutilation Syndrome, Choreoathetosis
- Self-Mutilation Syndromes, Choreoathetosis
- Syndrome, Choreoathetosis Self-Mutilation
- Syndrome, Juvenile Hyperuricemia
- Syndrome, Primary Hyperuricemia
- Syndromes, Choreoathetosis Self-Mutilation
- Syndromes, Juvenile Hyperuricemia
- Syndromes, Primary Hyperuricemia
- Total HPRT Deficiencies
- Total Hypoxanthine Guanine Phosphoribosyl Transferase Deficiency
- X Linked Hyperuricemia
- X Linked Primary Hyperuricemia
- X-Linked Hyperuricemias
- X-Linked Primary Hyperuricemias
MeSH Record
Aspects Covered
34 allowable subheadings
Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.
MeSH Record
History Note
1973(1971)
MeSH Record
Previous Indexing
- Athetosis (1966-1970)
- Mental Retardation (1966-1970)
- Purine-Pyrimidine Metabolism, Inborn Errors (1966-1970)
- Self Mutilation (1966-1970)
MeSH Hierarchy
Tree Numbers
AMA Style
References
- National Library of Medicine. Lesch-Nyhan Syndrome. Medical Subject Headings (MeSH). 2026. Unique ID D007926. http://id.nlm.nih.gov/mesh/2026/D007926
- Lesch-Nyhan Syndrome. In: Wikipedia. https://en.wikipedia.org/wiki/Lesch%E2%80%93Nyhan_syndrome
- Lesch-Nyhan Syndrome. In: Wikidata. https://www.wikidata.org/wiki/Q727436