Tag: Slc6a8

Approximately 95% of the body's total creatine stores are found in skeletal muscle, where creatine transport is essential for energy production. This critical process facilitates the movement of creatine into high-energy demand tissues, enabling crucial metabolic functions for both physical performance and cognitive health.

Creatine, a crucial molecule for energy metabolism, is transported into cells by a specific protein. This protein, known as the creatine transport protein (SLC6A8), plays an indispensable role in supplying creatine to tissues with high energy demands, such as the brain and muscles. Its function is so vital that genetic mutations affecting it can lead to severe neurological and developmental disorders.

Creatine deficiency syndromes are a group of rare, inherited metabolic disorders that affect creatine synthesis and transport. While many associate low creatine levels with diet or muscle mass, true genetic creatine deficiency is not a common condition. The prevalence varies by type, but all are considered rare, with some having been reported in fewer than 20 cases worldwide.