Pipecolic acid elevation in plasma and cerebrospinal fluid of two patients with pyridoxine-dependent epilepsy

• Published in: Annals of neurology Vol. 48; no. 1; pp. 121 - 125
• Main Authors: Plecko, Barbara, Stöckler-Ipsiroglu, Sylvia, Paschke, Eduard, Erwa, Wolfgang, Struys, Eduard A., Jakobs, Cornelis
• Format: Journal Article
• Language: English
• Published: New York John Wiley & Sons, Inc 01.07.2000; Willey-Liss
• Subjects: 2-Aminoadipic Acid - blood; 2-Aminoadipic Acid - cerebrospinal fluid; Biological and medical sciences; Child; Epilepsy - blood; Epilepsy - cerebrospinal fluid; Epilepsy - drug therapy; Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy; Humans; Infant, Newborn; Male; Medical sciences; Nervous system (semeiology, syndromes); Neurology; Picolinic Acids - blood; Picolinic Acids - cerebrospinal fluid; Pipecolic Acids - blood; Pipecolic Acids - cerebrospinal fluid; Pyridoxal Phosphate - blood; Pyridoxal Phosphate - cerebrospinal fluid; Pyridoxine - therapeutic use; Human; Case study; Nervous system diseases; Pipecolic acid derivatives; Central nervous system disease; Exploration; Pyridoxine; Epilepsy provoked by; Cerebrospinal fluid; Child; Cerebral disorder

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 incr...