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Start free with EleplanLesch-Nyhan syndrome
ORPHA:510Disease
Also called HPRT complete deficiency · HPRT deficiency grade IV · Hypoxanthine guanine phosphoribosyltransferase complete deficiency · Hypoxanthine guanine phosphoribosyltransferase deficiency, grade IV
What it is
A form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency characterized by uric acid overproduction, severe motor dysfunction, intellectual disability, and self-injurious behaviour (SIB).
Key facts
- Prevalence
- 1-9 / 1 000 000 (Italy)
- Age of onset
- Infancy
- Inheritance
- X-linked recessive
- Classified as
- Disease
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Very common80–99%
8These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Gene
ICD-10 codes
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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