Abstract
Two neonates with pyridoxine-dependent epilepsy and significant elevation of pipecolic acid in plasma and CSF are reported from the University Hospital Vienna, Austria.
Highlights
Two neonates with pyridoxine-dependent epilepsy and significant elevation of pipecolic acid in plasma and CSF are reported from the University Hospital Vienna, Austria
Pipecolic acid was continuously elevated in the plasma of the 2 infants with pyridoxine-dependent epilepsy (10 mcmol/L plasma), and was normal in 26 controls with non-pyridoxine-dependent seizures (2 mcmol/L)
High pipecolic acid levels are suggested as a diagnostic marker of pyridoxine-dependent epilepsy
Summary
Two neonates with pyridoxine-dependent epilepsy and significant elevation of pipecolic acid in plasma and CSF are reported from the University Hospital Vienna, Austria. The median percent reduction from baseline seizure frequency (56-day preliminary observation period) was 35% versus 9% for OXC and placebo groups, respectively (p=0.0001). The percent of patients with a >50% reduction in seizure frequency per 28 days was 41% for the OXC group and 22% with placebo (p=0.0005). Adverse events were reported in 91% and 82% of the OXC and placebo groups, respectively.
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