Specific treatment strategies were also implemented for patients with Glut1 deficiency syndrome (ketogenic diet and withdrawal of ASM), pyridoxine-dependent epilepsy (large daily supplements of pyridoxine), creatine transporter deficiency (supplementation with creatine), and neuronal ceroid lipofuscinosis (enzyme replacement therapy). The gene discussed is SLC2A1; the disease is X-linked creatine transporter deficiency.