Alpha-aminoadipic semialdehyde is the biomarker for pyridoxine dependent epilepsy caused by alpha-aminoadipic semialdehyde dehydrogenase deficiency.
Struys
Eduard A
EA
Jakobs
C
C
D000444:Aldehyde Dehydrogenase / Q000172:deficiency / Q000235:genetics*; D015415:Biomarkers; D006801:Humans; D020641:Polymorphism, Single Nucleotide; D012640:Seizures / Q000201:enzymology / Q000209:etiology / Q000235:genetics
D015415:Biomarkers; C089507:ALDH7A1 protein, human; D000444:Aldehyde Dehydrogenase