title: HPRT deficiency in Spain: what have we learned in the past 30 years (1984-2013)?
abstract: Since 1984, we have diagnosed at the La Paz University Hospital, Madrid, Spain, 41 patients with hypoxanthine phosphoribosyltransferase (HPRT) activity deficiency. These patients belonged to 34 families. We have also performed molecular and enzymatic diagnosis in three patients from India, one from Belgium, and three from Colombia. About 1/3 of these patients were followed up at La Paz University Hospital at least every year. This fact has allowed us to examine the complete spectrum of HPRT deficiency as well as to perform a more accurate diagnosis and treatment. In the present review, we also summarized our studies on the basis of physiopathology of the neurological manifestation of Lesch Nyhan disease (LND).
authors.affiliation: a Division of Biochemistry , La Paz University Hospital , IdiPaz , Madrid , Spain.
authors.forename: R J
authors.initials: RJ
authors.lastname: Torres
authors.forename: C
authors.initials: C
authors.lastname: Prior
authors.forename: M G
authors.initials: MG
authors.lastname: Garcia
authors.forename: L M
authors.initials: LM
authors.lastname: Beltran
authors.forename: J G
authors.initials: JG
authors.lastname: Puig
mesh_terms: D006801:Humans; D007926:Lesch-Nyhan Syndrome / Q000175:diagnosis / Q000378:metabolism / Q000503:physiopathology / Q000628:therapy; D013030:Spain
keywords: DNA/RNA analysis; Lesch Nyhan; gout; hyperuricemia; purinergic receptors; purinergic signaling