OBO ID: DOID:0050712
Term Name: AGAT deficiency Search Ontology:
Synonyms:
  • arginine:glycine amidinotransferase deficiency
  • CEREBRAL CREATINE DEFICIENCY SYNDROME 3
Definition: An amino acid metabolic disorder that has_material_basis_in a mutation in the GATM gene resulting in deficiency of arginine:glycine amidinotransferase which then limits creatine synthesis. http://en.wikipedia.org/wiki/Arginine:glycine_amidinotransferase#Deficiency
References:
Ontology: Human Disease   (DOID:0050712)
OTHER AGAT deficiency PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
GATM Cerebral creatine deficiency syndrome 3 612718
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None