Cerebral creatine deficiency

The main symptoms of CTD are intellectual disability and developmental delay, and these are caused by a lack of creatine in the brain, due to the defective transporter.

After production in the liver and kidneys, creatine is transported to organs and tissues with high energy demands, most commonly the brain and skeletal muscles.

[3]The clinical findings in all three CCDs result from the consequences of decreased levels of creatine in tissues where it is required.

[1] Creatine is synthesized primarily in the liver and kidneys via a two-step enzymatic process, with AGAT and GAMT enzymes.

[4] Initially diagnosis is typically established by creatine, creatinine, and guanidinoacetate measurement in the plasma, urine, and/or cerebrospinal fluid, as listed in the table below.

*Inconsistent data (variable urinary creatine/creatinine in females with CTD) Treatment for AGAT and GAMT mainly consists of creatine supplementation.

GAMT treatment may also include ornithine and sodium benzoate supplementation and/or diet restrictions in arginine and/or protein.

Depiction of normal creatine production pathway (top), creatine production in AGAT deficiency, creatine production in GAMT deficiency, creatine production in creatine transporter deficiency (bottom)
Depiction of normal creatine production pathway (top), creatine production in AGAT deficiency, creatine production in GAMT deficiency, creatine production in creatine transporter deficiency (bottom)