Case Report of Creatine Transporter Deficiency
Journal Title: Journal of Advanced Medical and Dental Sciences Research - Year 2018, Vol 6, Issue 12
Abstract
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.
Authors and Affiliations
Suhani Patel, Nivedita Patil, Gargi Chaphekar
Keywords
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