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Literature summary for 1.3.8.6 extracted from
- Multimodal imaging of striatal degeneration in Amish patients with glutaryl-CoA dehydrogenase deficiency (2007), Brain, 130, 1905-1920.
Application
| Application | Comment | Organism |
|---|---|---|
| medicine | glutaryl-CoA dehydrogenase deficiency (glutaric acidemia type 1, GA1) is a disorder of lysine and tryptophan degradation that results in accumulation of glutaric acid and 3-hydroxyglutaric acid in the brain and other tissues | Homo sapiens |
Protein Variants
| Protein Variants | Comment | Organism |
|---|---|---|
| C1296T | the mutation leads to glutaryl-CoA dehydrogenase deficiency | Homo sapiens |
Organism
| Organism | UniProt | Comment | Textmining |
|---|---|---|---|
| Homo sapiens | - |
- |
- |
Source Tissue
| Source Tissue | Comment | Organism | Textmining |
|---|---|---|---|
| blood | - |
Homo sapiens | - |
Synonyms
| Synonyms | Comment | Organism |
|---|---|---|
| GCDH | - |
Homo sapiens |
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Release 2023.1 (January 2023)
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