Application | Comment | Organism |
---|---|---|
medicine | alpha-AASA dehydrogenase deficiency results in pyridoxine dependent epilepsy. Patients show pathogenic mutations in the ALDH7A1 gene. Increase of alpha-AASA in urine of patients with alpha-AASA dehydrogenase deficiency makes this biomarker preferable towards the measurement of pipecolic acid, which shows non-specificity | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
additional information | alpha-AASA dehydrogenase deficiency is characterised by increases of alpha-aminoadipic semialdehyde in urine, plasma and cerebrospinal fluid | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
Synonyms | Comment | Organism |
---|---|---|
alpha-AASA dehydrogenase | - |
Homo sapiens |
alpha-aminoadipic semialdehyde dehydrogenase | - |
Homo sapiens |