Creatine Transporter Deficiency (CTD) is a rare genetic disorder caused by mutations in the SLC6A8 gene, which encodes the creatine transporter responsible for cellular uptake of creatine.
Background Cerebral creatine deficiency is caused by rare inherited disorders of either creatine biosynthesis (i.e. guanidinoacetate methyltransferase (GAMT) and arginine:glycine amidinotransferase ...
X-linked creatine transporter deficiency is caused by the deficiency of the creatine transporter encoded by the SLC6A8 gene on Xq28. We here report a 3-year-old boy with global developmental delay, ...
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