Pipecolic acid: A diagnostic marker in pyridoxine-dependent epilepsy [1]

Annals of Neurology

Volumn 58, Issue 4, 2005, Pages 653-

  Willemsen, Michèl A A P ^a   Mavinkurve Groothuis, Annelies M C ^a   Wevers, Ron A ^a   Rotteveel, Jan J ^a   Jakobs, Cornelis ^b  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b VU UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

4 AMINOBUTYRIC ACID; AMINO ACID; ANTICONVULSIVE AGENT; BIOCHEMICAL MARKER; PIPECOLIC ACID; PYRIDOXINE;

AUTOSOMAL RECESSIVE DISORDER; BLOOD LEVEL; BRAIN DISEASE; CASE REPORT; CEREBROSPINAL FLUID LEVEL; DEVELOPMENTAL DISORDER; DRUG WITHDRAWAL; DYSARTHRIA; ELECTROENCEPHALOGRAM; EPILEPSY; EPILEPTIC DISCHARGE; GAIT DISORDER; HUMAN; LETTER; MALE; MENTAL DEFICIENCY; PRESCHOOL CHILD; PRIORITY JOURNAL; SEIZURE; SPASTICITY; URINE LEVEL;

CHILD; ELECTROENCEPHALOGRAPHY; EPILEPSY; FOLLOW-UP STUDIES; HUMANS; MALE; PIPECOLIC ACIDS; PYRIDOXINE;

EID: 23644439107     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.20610     Document Type: Letter

References (3)

1. Baxter P. Pyridoxine-dependent seizures: a clinical and biochemical conundrum. Biochim Biophys Acta 2003;1647:36-41.
2. Plecko B, Stockler-Ipsiroglu S, Paschke E, et al. Pipecolic acid elevation in plasma and cerebrospinal fluid of two patients with pyridoxine-dependent epilepsy. Ann Neurol 2000;48:121-125.
3. Kok RM, Kaster L, de Jong APJM, et al. Stable isotope dilution analysis of pipecolic acid in cerebrospinal fluid, plasma, urine and amniotic fluid using electron capture negative ion mass fragmentography. Clin Chim Acta 1987;168:143-152.