|
Classification of HPRT deficiency based on clinical, biochemical, enzymatic and molecular data. |
||||
| 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 |
(-) |
(-) |
(-) |
(+) |
|
We have proposed a classification in four groups based on the clinical, biochemical, enzymatic and molecular data, derived from careful clinical observation of 36 patients from different Spanish families [18]. (+) Present or detectable. (-) Absent or undetectable. (+ -) May be present or not. | ||||
Torres and Puig Orphanet Journal of Rare Diseases 2007 2:48 doi:10.1186/1750-1172-2-48 |
||||