|Pyridoxine-Dependent Seizures Panel - Cerebrospinal Fluid
||Elevated quantities of alpha-aminoadipic semialdehyde (AASA) and its cyclic Shiff base, piperideine-6-carboxylate (P6C) are diagnostic for Pyridoxine-Dependent Seizures. Pipecolic acid may also be moderately elevated. This test reports the levels of P6C and pipecolic acid.
This test provides quantitative analysis of Piperideine-6-Carboxylate and Pipecolic Acid.|
Carrier Testing and Prenatal Analysis are not available by Analyte Analysis.
The Pyridoxine-Dependent Seizures Panel can also be performed on Plasma (#4811). Please see detailed requirements under this test code.
Piperideine-6-Carboxylate (P6C) is the cyclic isomer of alpha-aminoadipic semialdehyde (AASA) and the equilibrium between P6C and AASA is pH dependent. Under our assay conditions, P6C is the predominant form.
ALDH7A1 Sequence Analysis (#6950) for Pyridoxine-Dependent Seizures is also available. Please see detailed requirements under this test code.
||Alpha-aminoadipic semialdehyde dehydrogenase, Piperideine-6-Carboxylate
|References Values or Ranges:
||Ranges provided on the report