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.
Mit változtat a diagnózis
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.
Más néven
CCDS; CDS; creatine deficiency syndrome
3 kapcsolódó altípust tartalmaz ↓Altípusok elrejtése ↑
- AGAT deficiency
- creatine transporter deficiency
- guanidinoacetate methyltransferase deficiency
