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Literature summary for 2.1.1.2 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

Application Comment Organism
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

Protein Variants Comment Organism
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)

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

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Substrates and Products (Substrate)

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

Synonyms

Synonyms Comment Organism
guanidinoacetate methyltransferase
-
Homo sapiens