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. 2007 Aug;92(8):687-9.
doi: 10.1136/adc.2006.103192. Epub 2006 Nov 6.

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

Levinus A Bok  1 , Eduard Struys, Michel A A P Willemsen, Jasper V Been, Cornelis Jakobs
Affiliations

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

Levinus A Bok et al. Arch Dis Child. 2007 Aug.

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.

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Conflict of interest statement

Competing interests: None.

Comment in

  • Treatable neonatal epilepsy.
    Surtees R, Wolf N. Surtees R, et al. Arch Dis Child. 2007 Aug;92(8):659-61. doi: 10.1136/adc.2007.116913. Arch Dis Child. 2007. PMID: 17642476 Free PMC article.

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