Long-term treatment outcome of two patients with pyridoxine-dependent epilepsy caused by ALDH7A1 mutations: normal neurocognitive outcome.
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.
Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Canada.
Enas
E
Nasr
Department of Psychology, The Hospital for Sick Children, Toronto, Canada.
Eva
E
Mamak
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.
Anette
A
Feigenbaum
Division of Neurology, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Canada.
Elizabeth J
EJ
Donner
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.
Saadet
S
Mercimek-Mahmutoglu
D000293:Adolescent; D000444:Aldehyde Dehydrogenase / Q000235:genetics*; D002648:Child; D004827:Epilepsy / Q000188:drug therapy* / Q000235:genetics* / Q000503:physiopathology / Q000523:psychology; D006801:Humans; D008297:Male; D009154:Mutation; D009431:Neural Conduction; D009483:Neuropsychological Tests; D011736:Pyridoxine / Q000627:therapeutic use*; D013997:Time Factors; D016896:Treatment Outcome; D014803:Vitamin B Complex / Q000627:therapeutic use*
D014803:Vitamin B Complex; C089507:ALDH7A1 protein, human; D000444:Aldehyde Dehydrogenase; D011736:Pyridoxine
ALDH7A1; alpha-amino adipic acid semialdehyde; long-term treatment; neurodevelopment; pyridoxine; pyridoxine-dependent epilepsy