Article
Neuropsychological profile and clinical effects of arginine treatment in children with creatine transport deficiency.
Orphanet journal of rare diseases - 19 Jun 2012
Chilosi Annamaria, Casarano Manuela, Comparini Alessandro, Battaglia Francesca Maria, Mancardi Margherita Maria, Schiaffino Cristina, Tosetti Michela, Leuzzi Vincenzo, Battini Roberta, Cioni Giovanni
Abstract excerpt
BACKGROUND: SLC6A8, an X-linked gene, encodes the creatine transporter (CRTR) and its mutations lead to cerebral creatine (Cr) deficiency which results in mental retardation, speech and language delay, autistic-like behaviour and epilepsy (CRTR-D, OMIM 300352). CRTR-D represents the most frequent Cr metabolism disorder but, differently from Cr synthesis defects, that are partially reversible by oral Cr...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.