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Literature summary extracted from

  • Vodopiutz, J.; Item, C.B.; Haeusler, M.; Korall, H.; Bodamer, O.A.
    Severe speech delay as the presenting symptom of guanidinoacetate methyltransferase deficiency (2007), J. Child Neurol., 22, 773-774.
    View publication on PubMed

Application

EC Number Application Comment Organism
2.1.1.2 medicine guanidinoacetate methyltransferase deficiency is a rare autosomal recessive inborn error of creatine synthesis leading to accumulation of guanidinoacetate and lack of creatine in all tissues, particularly in the brain and muscle Homo sapiens

Protein Variants

EC Number Protein Variants Comment Organism
2.1.1.2 additional information mutation analysis of the guanidinoacetate methyltransferase gene is performed, the patient is found to be compound heterozygous for a known mitation in exon 2, c.327G>A, and for a novel mutation in exon 1, c170C>A Homo sapiens

Natural Substrates/ Products (Substrates)

EC Number Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
2.1.1.2 S-adenosyl-L-methionine + guanidinoacetate Homo sapiens
-
 S-adenosyl-L-homocysteine + creatine
-
 ?

Organism

EC Number Organism UniProt Comment Textmining
2.1.1.2 Homo sapiens
-
-
-

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
2.1.1.2 S-adenosyl-L-methionine + guanidinoacetate
-
 Homo sapiens S-adenosyl-L-homocysteine + creatine
-
 ?

Synonyms

EC Number Synonyms Comment Organism
2.1.1.2 guanidinoacetate methyltransferase
-
 Homo sapiens