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. 2015 Apr;30(5):648-53.
doi: 10.1177/0883073814531331. Epub 2014 May 1.

Long-term treatment outcome of two patients with pyridoxine-dependent epilepsy caused by ALDH7A1 mutations: normal neurocognitive outcome

Enas Nasr  1 , Eva Mamak  2 , Anette Feigenbaum  3 , Elizabeth J Donner  4 , Saadet Mercimek-Mahmutoglu  5
Affiliations

Long-term treatment outcome of two patients with pyridoxine-dependent epilepsy caused by ALDH7A1 mutations: normal neurocognitive outcome

Enas Nasr et al. J Child Neurol. 2015 Apr.

Abstract

Pyridoxine-dependent epilepsy is an autosomal recessively inherited disorder of lysine catabolism caused by mutations in the ALDH7A1 gene. We report 2 patients with normal neurocognitive outcome (full-scale IQ of 108 and 74) and their more than 10 years' treatment outcome on pyridoxine monotherapy. Both patients had specific borderline impairments in visual processing speed. More long-term treatment outcome reports will increase our knowledge about the natural history of the disease.

Keywords: ALDH7A1; alpha-amino adipic acid semialdehyde; long-term treatment; neurodevelopment; pyridoxine; pyridoxine-dependent epilepsy.

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