Abstract

Background: Pyridoxine-dependent seizures (PDS) is a rare, autosomal recessively inherited disorder. Recently α-aminoadipic semialdehyde (α-AASA) dehydrogenase deficiency was identified as a major cause of PDS, which causes accumulation of both α-AASA and pipecolic acid (PA) in body fluids.

Methods: We studied urinary and plasma α-AASA and PA levels in 12 Dutch clinically diagnosed patients with PDS.

Results: α-AASA was elevated in both urine and plasma in 10 patients. In these patients plasma PA levels were also elevated but urinary PA levels were normal.

Discussion: In all patients with clinically definite PDS, and in most patients with probable or possible PDS, the clinical diagnosis of PDS could be confirmed at the metabolite level. Non-invasive urinary screening for α-AASA accumulation provides a reliable tool to diagnose PDS and can save these patients from the classical and potentially dangerous pyridoxine withdrawal test to prove PDS.