KEGG   VARIANT: 2628v1
Entry
2628v1                      Variant                                
Name
GATM deficiency
Type
Loss of function
Gene
GATM  glycine amidinotransferase [KO:K00613]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 602360
Network
nt06033  Glycine, serine and arginine metabolism
Disease
H00849  Cerebral creatine deficiency syndrome
Reference
PMID:11555793
  Authors
Item CB, Stockler-Ipsiroglu S, Stromberger C, Muhl A, Alessandri MG, Bianchi MC, Tosetti M, Fornai F, Cioni G
  Title
Arginine:glycine amidinotransferase deficiency: the third inborn error of creatine metabolism in humans.
  Journal
Am J Hum Genet 69:1127-33 (2001)
DOI:10.1086/323765
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