Guanidinoacetate methyltransferase deficiency

Synonym(s)
- Cerebral creatine deficiency syndrome type 2
Type

Disease
External link(s)
Gene
- GAMT / Guanidinoacetate N-methyltransferase
  19p13.3
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Guanidinoacetate N-methyltransferase
Pathway
- Creatin metabolism
Disease group(s)
- 5.3 Disorders of creatine metabolism