title: Pipecolic acid elevation in plasma and cerebrospinal fluid of two patients with pyridoxine-dependent epilepsy.
abstract: Diagnosis of pyridoxine-dependent epilepsy is based on the clinical response to high-dosage application of pyridoxine. Here, we report on 2 patients with pyridoxine-dependent epilepsy with significant elevation of pipecolic acid concentrations in plasma and cerebrospinal fluid (CSF) and further increase of pipecolic acid in CSF during a 72-hour pyridoxine withdrawal in 1 of them. Patients with non-pyridoxine-dependent epilepsy had normal pipecolic acid concentrations in plasma and significantly lower concentrations in CSF. High plasma and CSF pipecolic acid concentrations might provide a diagnostic marker in pyridoxine-dependent epilepsy.
authors.affiliation: Department of Pediatrics, University Hospital, Graz, Austria.
authors.forename: B
authors.initials: B
authors.lastname: Plecko
authors.forename: S
authors.initials: S
authors.lastname: Stöckler-Ipsiroglu
authors.forename: E
authors.initials: E
authors.lastname: Paschke
authors.forename: W
authors.initials: W
authors.lastname: Erwa
authors.forename: E A
authors.initials: EA
authors.lastname: Struys
authors.forename: C
authors.initials: C
authors.lastname: Jakobs
mesh_terms: D015074:2-Aminoadipic Acid / Q000097:blood / Q000134:cerebrospinal fluid; D002648:Child; D004827:Epilepsy / Q000097:blood* / Q000134:cerebrospinal fluid* / Q000188:drug therapy; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010848:Picolinic Acids / Q000097:blood / Q000134:cerebrospinal fluid; D010875:Pipecolic Acids / Q000097:blood* / Q000134:cerebrospinal fluid*; D011732:Pyridoxal Phosphate / Q000097:blood / Q000134:cerebrospinal fluid; D011736:Pyridoxine / Q000627:therapeutic use*
chemical_list: D010848:Picolinic Acids; D010875:Pipecolic Acids; D015074:2-Aminoadipic Acid; C008919:delta-1-piperidine-6-carboxylic acid; D011732:Pyridoxal Phosphate; C031345:pipecolic acid; D011736:Pyridoxine