Cerebral Creatine Deficiency Syndrome
Includes GAMT and AGAT deficiency (autosomal recessive) and creatine transporter deficiency (SLC6A8, X-linked), which can cause intellectual disability, speech delay, seizures and behavioural problems.
What a diagnosis changes
Knowing allows creatine supplementation, with ornithine and dietary changes in GAMT deficiency, which can improve or prevent symptoms in the synthesis defects when started early.
Also known as
CCDS; CDS; creatine deficiency syndrome
Includes 3 related subtypes ↓Hide subtypes ↑
- AGAT deficiency
- creatine transporter deficiency
- guanidinoacetate methyltransferase deficiency
