Arginine:glycine amidinotransferase deficiency

(AGAT deficiency)

Synonym(s)
- Cerebral creatine deficiency syndrome type 3
Type

Disease
External link(s)
Gene
- GATM / glycine amidinotransferase
  15q21.1
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Glycine amidinotransferase, mitochondrial
Pathway
- Creatin metabolism
Disease group(s)
- 5.3 Disorders of creatine metabolism
Child entries
- Fanconi renotubular syndrome type 1