Pyridoxine-dependent seizures in Dutch patients: diagnosis by elevated urinary alpha-aminoapdipic semialdehyde levels

Bok, Levinus A.; Struys, Eduard; Willemsen, Michel A. A. P.; Been, Jasper V.; Jakobs, Cornelis
August 2007
Archives of Disease in Childhood;Aug2007, Vol. 92 Issue 8, p687
Academic Journal
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.


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