Lesch Nyhan syndrome - Sanjay Manohar's Medical Browser
Lesch Nyhan syndrome
Synonyms
- Lesch-Nyhan syndrome
- Hypoxanthine guanine phosphoribosyl transferase deficiency
- HPRT deficiency
- Kelley-Seegmiller syndrome
- Juvenile gout
Causes
Effects
Parents
Description
- "Purines not salvaged
- degreaded to urate.
Manifests at 3-12 months
deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase"