title: Lesch Nyhan syndrome: a novel complex mutation in a Tunisian child.
abstract: Lesch Nyhan syndrome (LNS) is an X-linked recessive disorder due to complete deficiency of the hypoxanthine-guanine phosphoribosyltransferase (HPRT) enzyme. Defect of the enzymatic activity is related to mutations of the HPRT1 gene. The disorder severity is due to neurological features and renal complications. Up to now, more than 300 mutations have been reported. We report on a Tunisian child with a severe phenotype due to a novel identified complex mutation.
authors: Department of Child and Adolescent Neurology, National Institute Mongi Ben Hmida of Neurology, Tunis, Tunisia.
authors: Ibtihel
authors: I
authors: Rebai
authors: Department of Child and Adolescent Neurology, National Institute Mongi Ben Hmida of Neurology, Tunis, Tunisia. Electronic address: kraoua_ichraf@yahoo.fr.
authors: Ichraf
authors: I
authors: Kraoua
authors: Department of Child and Adolescent Neurology, National Institute Mongi Ben Hmida of Neurology, Tunis, Tunisia.
authors: Hanene
authors: H
authors: Benrhouma
authors: Department of Child and Adolescent Neurology, National Institute Mongi Ben Hmida of Neurology, Tunis, Tunisia.
authors: Aida
authors: A
authors: Rouissi
authors: Department of Child and Adolescent Neurology, National Institute Mongi Ben Hmida of Neurology, Tunis, Tunisia.
authors: Ilhem
authors: I
authors: Turki
authors: Laboratory of Metabolic Biochemistry, Hôpital Necker Enfants Malades, Paris, France.
authors: Irène
authors: I
authors: Ceballos-Picot
authors: Department of Child and Adolescent Neurology, National Institute Mongi Ben Hmida of Neurology, Tunis, Tunisia.
authors: Neziha
authors: N
authors: Gouider-Khouja
mesh_terms: D002648:Child; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000172:deficiency / Q000235:genetics*; D007926:Lesch-Nyhan Syndrome / Q000235:genetics*; D008297:Male; D009154:Mutation / Q000235:genetics*; D014416:Tunisia
chemical_list: D007041:Hypoxanthine Phosphoribosyltransferase
keywords: Complex mutation; Dystonia; Lesch Nyhan syndrome; Uric acid