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

Enas Nasr; Eva Mamak; Anette Feigenbaum; Elizabeth J Donner; Saadet Mercimek-Mahmutoglu

doi:10.1177/0883073814531331

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

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

Authors

Enas Nasr¹, Eva Mamak², Anette Feigenbaum³, Elizabeth J Donner⁴, Saadet Mercimek-Mahmutoglu⁵

Affiliations

¹ Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Canada.
² Department of Psychology, The Hospital for Sick Children, Toronto, Canada.
³ Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Canada Department of Pediatrics & Biochemical Genetics, Rady Children's Hospital-San Diego, University of California, San Diego, CA, USA.
⁴ Division of Neurology, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Canada.
⁵ Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Canada Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, Canada saadet.mahmutoglu@sickkids.ca.

PMID: 24789515
DOI: 10.1177/0883073814531331

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.

MeSH terms

Adolescent
Aldehyde Dehydrogenase / genetics*
Child
Epilepsy / drug therapy*
Epilepsy / genetics*
Epilepsy / physiopathology
Epilepsy / psychology
Humans
Male
Mutation*
Neural Conduction
Neuropsychological Tests
Pyridoxine / therapeutic use*
Time Factors
Treatment Outcome
Vitamin B Complex / therapeutic use*

Substances

Vitamin B Complex
ALDH7A1 protein, human
Aldehyde Dehydrogenase
Pyridoxine

Supplementary concepts

Pyridoxine-dependent epilepsy