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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. |
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