Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
Plecko, B; Stöckler-Ipsiroglu, S; Paschke, E; Erwa, W; Struys, EA; Jakobs, C.
Pipecolic acid elevation in plasma and cerebrospinal fluid of two patients with pyridoxine-dependent epilepsy.
Ann Neurol. 2000; 48(1):121-125
Doi: 10.1002/1531-8249(200007)48:1<121::AID-ANA20>3.0.CO;2-V
(- Case Report)
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PubMed
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- Führende Autor*innen der Med Uni Graz
- Plecko Barbara
- Co-Autor*innen der Med Uni Graz
- Erwa Wolfgang
- Paschke Eduard
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- 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.
- Find related publications in this database (using NLM MeSH Indexing)
- 2-Aminoadipic Acid - blood
- 2-Aminoadipic Acid - cerebrospinal fluid
- Child -
- Epilepsy - blood
- Epilepsy - cerebrospinal fluid
- Epilepsy - drug therapy
- Humans -
- Infant, Newborn -
- Male -
- Picolinic Acids - blood
- Picolinic Acids - cerebrospinal fluid
- Pipecolic Acids - blood
- Pipecolic Acids - cerebrospinal fluid
- Pyridoxal Phosphate - blood
- Pyridoxal Phosphate - cerebrospinal fluid
- Pyridoxine - therapeutic use