Protein Variants | Comment | Organism |
---|---|---|
M263V | analysis of a naturally occurring mutation in a Turkish patient with glutaric aciduria type I | Homo sapiens |
Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
---|---|---|---|---|---|---|
additional information | Homo sapiens | enzyme deficiency leads to glutaric aciduria type I with accumulation of glutarate and 3-hydroxyglutarate with subsequent neuronal destruction during metabolic crises triggered by catabolic stress, treatment with isocaloric glucose and carnitine infusion and suspension of protein intake can recover the patient from apathy | ? | - |
? |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
patient suffering glutaric aciduria type I | - |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
additional information | enzyme deficiency leads to glutaric aciduria type I with accumulation of glutarate and 3-hydroxyglutarate with subsequent neuronal destruction during metabolic crises triggered by catabolic stress, treatment with isocaloric glucose and carnitine infusion and suspension of protein intake can recover the patient from apathy | Homo sapiens | ? | - |
? |
Synonyms | Comment | Organism |
---|---|---|
GCDH | - |
Homo sapiens |