Cerebral Creatinine Deficiency

Cerebral Creatinine Deficiency Syndromes

Creatine deficiency refers to syndromes, language and speech disorders, epilepsy and mental retardation. In addition, patients with Guanidinoacetate Methyltransferase deficiency or creatine transporter deficiency present with autistic spectrum behaviors.

The common point of these diseases can be detected by in vivo proton magnetic resonance spectroscopy, as well as the depletion of the brain’s creatine pool. In the diagnosis of the disease, the results of guanidinoacetate, creatine plasma and urine creatinine analysis tests should be evaluated. In line with these findings, some enzyme tests or DNA mutation analysis can be performed.

Since

Creatine deficiency syndromes are often overlooked in the clinic, they should definitely be considered in cases of unexplained mental retardation, seizures, and speech problems. Guanidinoacetate methyltransferase deficiency and arginine-glycine amidinotransferase deficiency can be treated with creatine supplementation, but patients with creatine transporter deficiency cannot respond to this treatment.