Volume 6 Issue 12 (December, 2018)

Case Reports

Case Report of Creatine Transporter Deficiency
Suhani Patel, Nivedita Patil, Gargi Chaphekar

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.

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