title: Normal plasma pipecolic acid level in pyridoxine dependent epilepsy due to ALDH7A1 mutations.
authors.forename: Saadet
authors.initials: S
authors.lastname: Mercimek-Mahmutoglu
authors.forename: Elizabeth J
authors.initials: EJ
authors.lastname: Donner
authors.forename: Komudi
authors.initials: K
authors.lastname: Siriwardena
mesh_terms: D000293:Adolescent; D000444:Aldehyde Dehydrogenase / Q000235:genetics*; D002648:Child; D004827:Epilepsy / Q000097:blood / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D010875:Pipecolic Acids / Q000097:blood*; D011736:Pyridoxine / Q000235:genetics
chemical_list: D010875:Pipecolic Acids; C089507:ALDH7A1 protein, human; D000444:Aldehyde Dehydrogenase; C031345:pipecolic acid; D011736:Pyridoxine
keywords: ALDH7A1; Alpha-aminoadipic acid semialdehyde; CSF; CSF pipecolic acid; CSF-PA; P-PA; P6C; PA; PDE; PDE caused by ALDH7A1 genetic defect; PDE-ALDH7A1; Pipecolic acid; Pyridoxine dependent epilepsy; U-PA; alpha-aminoadipic acid semialdehyde; alpha-aminoadipic semialdehyde dehydrogenase; cerebral spinal fluid; pipecolic acid; piperidine 6-carboxylic acid; plasma pipecolic acid; pyridoxine dependent epilepsy; urine pipecolic acid; α-AASA; α-AASAD