From: Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome
 | Partial deficiency (Kelly-Seegmiller syndrome) | Lesch-Nyhan | ||
---|---|---|---|---|
 | Grade 1 | Grade 2 | Grade 3 | Grade 4 |
Patients | 6 | 3 | 2 | 25 |
HPRT haemolysate | (+) | (-) | (-) | (-) |
HPRT erythrocyte | (+) | (+) | (-) | (-) |
Size of protein altered | (-) | (-) | (-) | (+,-) |
Self-mutilation | (-) | (-) | (-) | (+) |