Article
Lesch Nyhan syndrome: a novel complex mutation in a Tunisian child.
Brain & development - 1 Nov 2014
Rebai Ibtihel, Kraoua Ichraf, Benrhouma Hanene, Rouissi Aida, Turki Ilhem, Ceballos-Picot Irène, Gouider-Khouja Neziha
Abstract excerpt
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...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.