Any feedback?
Please rate this page
(literature.php)
(0/150)

BRENDA support

Literature summary for 2.1.4.1 extracted from

  • Verhoeven, N.M.; Salomons, G.S.; Jakobs, C.
    Laboratory diagnosis of defects of creatine biosynthesis and transport (2005), Clin. Chim. Acta, 361, 1-9.
    View publication on PubMed

Application

Application Comment Organism
medicine diagnosis of AGAT deficiency can be conformed by enzymatic assays in various cell types. The genetic defects can be proven by mutation analysis of the gene involved. Prenatal diagnosis is possible by mutation analysis Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
L-arginine + glycine Homo sapiens enzyme is involved in biosynthesis of creatine. Patients with AGAT deficiency show mental and motor retardation and severe delay in speech development. Both creatine and guanidinoacetate are decreased in body fluids of AGAT-deficient patients L-ornithine + guanidinoacetate
-
?

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Source Tissue

Source Tissue Comment Organism Textmining
blood plasma
-
Homo sapiens
-
lymphoblast
-
Homo sapiens
-
urine
-
Homo sapiens
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
L-arginine + glycine enzyme is involved in biosynthesis of creatine. Patients with AGAT deficiency show mental and motor retardation and severe delay in speech development. Both creatine and guanidinoacetate are decreased in body fluids of AGAT-deficient patients Homo sapiens L-ornithine + guanidinoacetate
-
?

Synonyms

Synonyms Comment Organism
AGAT
-
Homo sapiens