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Table 1 Classification of HPRT deficiency based on clinical, biochemical, enzymatic and molecular data.

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 (-) (-) (-) (+)
  1. 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.