Abstract
Background: Pyridoxine dependent epilepsy (PDE), also known as antiquitin deficiency, is an epileptic encephalopathy autosomal recessive disorder of lysine catabolism. It is caused by mutations in the ALDH7A1 gene resulting in the deficiency of α-aminoadipic semialdehyde (AASA) dehydrogenase, causing the accumulation of AASA and its cyclic counterpart Δ1-piperideine-6-carboxylic acid (P6C). Two additional biomarkers have been recently described, 6-oxo-pipecolic (6oxoPIP) and 6-(2-oxopropyl) piperidine-2-carboxylic acid (2OPP).
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