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Arch Dis Child. 2007 Aug;92(8):687-9. Epub 2006 Nov 6.

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

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  • 1Department of Paediatrics, Máxima Medical Center, Veldhoven, The Netherlands. L.Bok@mmc.nl

Abstract

BACKGROUND:

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

METHODS:

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

RESULTS:

Alpha-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 alpha-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.

Comment in

PMID:
17088338
[PubMed - indexed for MEDLINE]
PMCID:
PMC2083882
Free PMC Article
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