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Pyridoxine-dependent seizures in Dutch patients: diagnosis by elevated urinary alpha-aminoadipic semialdehyde levels
  1. Levinus A Bok1,
  2. Eduard Struys2,
  3. Michel A A P Willemsen3,
  4. Jasper V Been4,
  5. Cornelis Jakobs2
  1. 1Department of Paediatrics, Máxima Medical Center, Veldhoven, The Netherlands
  2. 2Metabolic Unit, Department of Clinical Chemistry, VU University Medical Center, Amsterdam, The Netherlands
  3. 3Department of Paediatric Neurology, University Medical Center Nijmegen, Nijmegen, The Netherlands
  4. 4Department of Paediatrics, Maastricht University Hospital, Maastricht, The Netherlands
  1. Correspondence to:
    Levinus A Bok
    Maxima Medical Center, Department of Pediatrics, PO Box 7777, 5500 MB Veldhoven, The Netherlands; L.Bok{at}


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.

  • α-AASA, α-aminoadipic semialdehyde
  • PA, pipecolic acid
  • PDS, pyridoxine-dependent seizures
  • P5P, pyridoxal-5-phosphate
  • P6C, piperideine-6-carboxylate

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  • Published Online First 6 November 2006

  • Competing interests: None.

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