Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome

Table 1 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.

ISSN: 1750-1172