Athletes, body builders, and military personnel use dietary creatine as an ergogenic aid to
boost physical performance in sports involving short bursts of high-intensity muscle activity …

A compromised intrauterine environment that delivers low levels of oxygen and/or nutrients,
or is infected or inflammatory, can result in fetal brain injury, abnormal brain development …

We report the first X-linked creatine-deficiency syndrome caused by a defective creatine
transporter. The male index patient presented with developmental delay and hypotonia …

Major achievements made over the last several years have highlighted the important roles of
creatine and the creatine kinase reaction in health and disease. Inborn errors of metabolism …

Arginine: glycine amidinotransferase (AGAT) catalyzes the first step of creatine synthesis,
resulting in the formation of guanidinoacetate, which is a substrate for creatine formation. In …

The cellular role of creatine (Cr) and Cr phosphate (CrP) has been studied extensively in
neural, cardiac and skeletal muscle. Several studies have demonstrated that alterations in …

Since the first description of a creatine deficiency syndrome, the guanidinoacetate
methyltransferase (GAMT) deficiency, in 1994, the two further suspected creatine deficiency …

Substantial evidence indicates that bioenergetic dysfunction plays either a primary or
secondary role in the pathophysiology of cell death in neurodegenerative and …

Mental retardation (MR) is one of the few clinically important disorders for which the
etiopathogenesis is still poorly understood. It is a condition of great concern for public health …

A novel X-linked mental retardation (XLMR) syndrome was recently identified, resulting from
creatine deficiency in the brain caused by mutations in the creatine transporter gene …