Archives of Disease in Childhood 2007;92:687-689
ORIGINAL ARTICLE
Pyridoxine-dependent seizures in Dutch patients: diagnosis by elevated urinary alpha-aminoadipic semialdehyde levels
1 Department of Paediatrics, Máxima Medical Center, Veldhoven, The Netherlands
2 Metabolic Unit, Department of Clinical Chemistry, VU University Medical Center, Amsterdam, The Netherlands
3 Department of Paediatric Neurology, University Medical Center Nijmegen, Nijmegen, The Netherlands
4 Department of Paediatrics, Maastricht University Hospital, Maastricht, The Netherlands
Correspondence to:
Levinus A Bok
Maxima Medical Center, Department of Pediatrics, PO Box 7777, 5500 MB Veldhoven, The Netherlands; L.Bok{at}mmc.nl
Background: Pyridoxine-dependent seizures (PDS) is a rare, autosomal recessively inherited disorder. Recently 
-aminoadipic semialdehyde (-AASA) dehydrogenase deficiency was identified as a major cause of PDS, which causes accumulation of both -AASA and pipecolic acid (PA) in body fluids.
Methods: We studied urinary and plasma -AASA and PA levels in 12 Dutch clinically diagnosed patients with PDS.
Results: -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 -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.
Abbreviations: -AASA, -aminoadipic semialdehyde; PA, pipecolic acid; PDS, pyridoxine-dependent seizures; P5P, pyridoxal-5-phosphate; P6C, piperideine-6-carboxylate
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Arch. Dis. Child. 2007 92: 659-661.
Arch. Dis. Child. 2007 92: e8.
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