Cardiac manifestations in a child with a novel mutation in creatine transporter gene SLC6A8.

摘要

The creatine-phosphocreatine shuttle serves to maintain a high-energy phosphate supply for normal cellular function. Most creatine is derived from the diet; the rest is synthesized primarily in the liver, pancreas, and kidneys. The transport of creatine in tissues is accomplished by the Na -dependent transporter SLC6A8. Expression of the SLC6A8 gene is high in skeletal muscle, heart, and kidney, moderate in brain, and extremely low in liver and pancreas.