Lesch-Nyhan Syndrome [Leschův-Nyhanův syndrom]
- Terms
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deficit hypoxantin-guaninfosforibozyltransferázy
deficit hypoxantinfosforibozyltransferázy
kompletní deficit HPRT
kompletní deficit hypoxanthin-fosforibosyltransferázy
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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
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)
- DUI
- D007926 MeSH Browser
- CUI
- M0012368
- Previous indexing
- Athetosis (1966-1970); Mental Retardation (1966-1970); Purine-Pyrimidine Metabolism, Inborn Errors (1966-1970); Self Mutilation (1966-1970)
- History note
- 1973(1971)
- Public note
- 1973
Allowable subheadings
- BL
- blood
- CF
- cerebrospinal fluid
- CI
- chemically induced
- CL
- classification
- CO
- complications 1
- DI
- diagnosis 8
- DG
- diagnostic imaging
- DH
- diet therapy
- DT
- drug therapy
- EC
- economics
- EM
- embryology
- EN
- enzymology
- EP
- epidemiology
- EH
- ethnology
- ET
- etiology 3
- GE
- genetics 3
- HI
- history
- IM
- immunology
- ME
- metabolism
- MI
- microbiology
- MO
- mortality
- NU
- nursing 1
- PS
- parasitology
- PA
- pathology
- PP
- physiopathology 1
- PC
- prevention & control
- PX
- psychology
- RT
- radiotherapy
- RH
- rehabilitation
- SU
- surgery
- TH
- therapy 4
- UR
- urine 2
- VE
- veterinary
- VI
- virology
Lesch-Nyhan Syndrome, Neurologic Variant Disease MeSH Browser