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Literature summary for extracted from

  • Struys, E.A; Jakobs, C.
    Alpha-aminoadipic semialdehyde is the biomarker for pyridoxine dependent epilepsy caused by alpha-aminoadipic semialdehyde dehydrogenase deficiency (2007), Mol. Genet. Metab., 91, 405.
    View publication on PubMed


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