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