title: Pyridoxine-dependent epilepsy due to antiquitin deficiency: achieving a favourable outcome.
abstract: We report 4 pyridoxine-dependent epilepsy patients in which good outcome was determined in three. The 4 patients were male and aged from 7 to 24 years old (from three unrelated Caucasian families). A clinical diagnosis of neonatal pyridoxine-dependent epilepsy was confirmed by biochemical and genetic studies. Clinical evaluation was performed and medical records were reviewed for therapy implementation and management, neurodevelopment outcome, magnetic resonance imaging, and electroencephalography. All were taking pyridoxine treatment and were seizure-free. Elevated urinary alpha-aminoadipic semialdehyde excretion was found in all patients. Antiquitin gene analysis identified a large homozygous deletion in one patient and two heterozygous mutations in the others. Treatment with pyridoxine should be attempted for all cases of infantile and childhood refractory epilepsy, as has been the case over the last 20 years. Currently, urinary alpha-aminoadipic semialdehyde is a reliable biomarker of pyridoxine-dependent epilepsy, even under pyridoxine treatment. Detection of mutations in the antiquitin gene, encoding alpha-aminoadipic semialdehyde dehydrogenase, establishes the diagnosis and allows for adequate genetic counselling.
authors.affiliation: Serviço de Genética Médica.
authors.forename: Renata
authors.initials: R
authors.lastname: Oliveira
authors.affiliation: Centro de Desenvolvimento Luís Borges, Hospital Pediátrico - Centro Hospitalar Universitário de Coimbra, Portugal.
authors.forename: Cristina
authors.initials: C
authors.lastname: Pereira
authors.affiliation: Serviço de Genética Médica.
authors.forename: Fidjy
authors.initials: F
authors.lastname: Rodrigues
authors.affiliation: Centro de Desenvolvimento Luís Borges, Hospital Pediátrico - Centro Hospitalar Universitário de Coimbra, Portugal.
authors.forename: Claudia
authors.initials: C
authors.lastname: Alfaite
authors.affiliation: Centro de Desenvolvimento Luís Borges, Hospital Pediátrico - Centro Hospitalar Universitário de Coimbra, Portugal, Metabolic Unit, Department of Clinical Chemistry, VU University Medical Center Amsterdam, The Netherlands.
authors.forename: Paula
authors.initials: P
authors.lastname: Garcia
authors.affiliation: Centro de Desenvolvimento Luís Borges, Hospital Pediátrico - Centro Hospitalar Universitário de Coimbra, Portugal.
authors.forename: Conceição
authors.initials: C
authors.lastname: Robalo
authors.affiliation: Centro de Desenvolvimento Luís Borges, Hospital Pediátrico - Centro Hospitalar Universitário de Coimbra, Portugal.
authors.forename: Isabel
authors.initials: I
authors.lastname: Fineza
authors.affiliation: Centro de Desenvolvimento Luís Borges, Hospital Pediátrico - Centro Hospitalar Universitário de Coimbra, Portugal.
authors.forename: Olavo
authors.initials: O
authors.lastname: Gonçalves
authors.affiliation: Metabolic Unit, Department of Clinical Chemistry, VU University Medical Center Amsterdam, The Netherlands.
authors.forename: Eduard
authors.initials: E
authors.lastname: Struys
authors.affiliation: Metabolic Unit, Department of Clinical Chemistry, VU University Medical Center Amsterdam, The Netherlands.
authors.forename: Gajja
authors.initials: G
authors.lastname: Salomons
authors.affiliation: Metabolic Unit, Department of Clinical Chemistry, VU University Medical Center Amsterdam, The Netherlands.
authors.forename: Cornelis
authors.initials: C
authors.lastname: Jakobs
authors.affiliation: Centro de Desenvolvimento Luís Borges, Hospital Pediátrico - Centro Hospitalar Universitário de Coimbra, Portugal, Metabolic Unit, Department of Clinical Chemistry, VU University Medical Center Amsterdam, The Netherlands.
authors.forename: Luísa
authors.initials: L
authors.lastname: Diogo
mesh_terms: D000328:Adult; D000444:Aldehyde Dehydrogenase / Q000172:deficiency*; D002648:Child; D004569:Electroencephalography / Q000379:methods; D004827:Epilepsy / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics; D011736:Pyridoxine / Q000009:adverse effects / Q000627:therapeutic use; D016896:Treatment Outcome
chemical_list: C089507:ALDH7A1 protein, human; D000444:Aldehyde Dehydrogenase; D011736:Pyridoxine
keywords: ALDH7A1; pyridoxine-dependent epilepsy; α-AASA