The Cerebral Creatine Deficiency Syndromes (CCDS), are inborn errors of creatine metabolism which include Creatine Transporter Deficiency (CTD) and the two creatine biosynthesis disorders, guanidinoacetate methyltransferase (GAMT) deficiency and L-arginine:glycine amidino transferase (AGAT) deficiency.1, 2 Creatine Transporter Deficiency (CTD, SLC6A8 Deficiency, CRTR) is a rare X-linked inborn error of creatine metabolism, broadly classified as an Autism Spectrum Disorder and form of X-linked intellectual disability and developmental delay. CTD is caused by a defect in the SLC6A8 gene that encodes the creatine transporter protein necessary for the transport of creatine across the blood-brain barrier and across cell membranes.In the present study, we present a case report of Creatine Transporter Deficiency in a 1.5 years old male child.
Key words: Creatine Deficiency Syndromes, Creatine Transporter Deficiency.
Received: 13 September 2018 Revised: 12 November 2018 Accepted: 15 November 2018
Corresponding Author: Dr. Suhani Patel Junior resident, D.Y. Patil hospital & Research Centre, Kadamwadi, Kolhapur-416003, Maharashtra, India
This article may be cited as: Patel S, Patil N, Chaphekar G. Case Report of Creatine Transporter Deficiency. J Adv Med Dent Scie Res 2018;6(12):35-37.