EP194: Three generations of females with a heterozygous likely pathogenic variant in SLC6A8 causative of X-linked creatine transporter defect

Abstract

SLC6A8-Related Disorders falls under the umbrella of cerebral creatine deficiency syndromes (CCDS). CCDS are inborn errors of creatine metabolism. SLC6A8-Related Disorders is specifically a creatine transporter deficiency. The SLC6A8 is located at Xq28 and encodes for the sodium- and chloride-dependent creatine transporter 1 that assists in transporting creatine into cells. Pathogenic variants in SLC6A8 impair the ability of the transporter protein to bring creatine into cells, resulting in a creatine shortage.