916 |
Coughlin C.R., II, Tseng L.A., Abdenur J.E., Ashmore C., Boemer F., Bok L.A., Boyer M., Buhas D., Clayton P.T., Das A., Dekker H., Evangeliou A., Feillet F., Footitt E.J., Gospe S.M., Jr., Hartmann H., Kara M., Kristensen E., Lee J., Lilje R., Longo N., Lunsing R.J., Mills P., Papadopoulou M.T., Pearl P.L., Piazzon F., Plecko B., Saini A.G., Santra S., Sjarif D.R., Stockler-Ipsiroglu S., Striano P., Van Hove J.L.K., Verhoeven-Duif N.M., Wijburg F.A., Zuberi S.M., van Karnebeek C.D.M. |
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Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency |
2021 |
Journal of Inherited Metabolic Disease |
44 |
1 |
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178 |
192 |
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9 |
https://www.scopus.com/inward/record.uri?eid=2-s2.0-85096935873&doi=10.1002%2fjimd.12332&partnerID=40&md5=519c5479b1e22e3b77f1890b9b382e4d |
Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado Anschutz Medical Campus, Aurora, CO, United States; Department of Pediatrics Emma Children's Hospital, Amsterdam University Medical Centre, Amsterdam, Netherlands; Division of Metabolic Disorders, CHOC Children's Hospital, Orange, CA, United States; Birmingham Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom; Department of Human Genetics, Centre Hospitalier Universitaire Sart-Tilman, Liège, Belgium; Department of Pediatrics and Neonatology, Máxima Medical Center, Veldhoven, Netherlands; Division of Medical Genetics, Department of Specialized Medicine, Montreal Children's Hospital, McGill University Health Centre, Québec, Canada; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, United Kingdom; Clinic for Paediatric Kidney, Liver, and Metabolic Diseases, Hannover Medical School, Hannover, Germany; VKS: Dutch Patient Organization for Metabolic Diseases, Zwolle, Netherlands; Division of Child Neurology and Inherited Metabolic Disorders, 4th Department of Pediatrics, Aristotle University of Thessaloniki, General Hospital Papageorgiou, Thessaloniki, Greece; Reference Center for Inborn Errors of Metabolism, Pediatric Unit, University Hospital of Nancy, Nancy, France; INSERM UMR S 1256, Nutrition, Genetics, and Environmental Risk Exposure (NGERE), Faculty of Medicine of Nancy, University of Lorraine, Nancy, France; Department of Metabolic Paediatrics, Great Ormond Street Hospital, London, United Kingdom; Division of Pediatric Neurology, Departments of Neurology and Pediatrics, University of Washington, Seattle, WA, United States; Department of Pediatrics, Duke University, Durham, NC, United States; Department of Pediatrics, University of Tripoli, Tripoli, Libyan Arab Jamahiriya; National Management of Newborn Screening and Advanced Laboratory Diagnostics in Inborn Errors of Metabolism, Department of Children and Adolescent Medicine, Oslo University Hospital, Oslo, Norway; Department of Metabolic Medicine, The Royal Children's Hospital, Melbourne, VIC, Australia; Department of Children and Adolescent Medicine, Oslo University Hospital, Oslo, Norway; Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, UT, United States; Department of Neurology, University Medical Center Groningen, University of Groningen, Groningen, Netherlands; Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States; Neurometabolic Clinic, Children's Institute, University of Sao Paulo, Brazil; Division of General Pediatrics, Department of Pediatrics and Adolescent Medicine, Medical University of Graz, Graz, Austria; Pediatric Neurology Unit, Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India; Department of Child Health, Faculty of Medicine, Universitas Indonesia, Jakarta, Indonesia; Division of Biochemical Genetics, BC Children's Hospital, University of British Columbia, Vancouver, BC, Canada; Pediatric Neurology and Muscular Diseases Unit, IRCCS “G. Gaslini” Institute, Genoa, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, Genoa, Italy; Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands; Paediatric Neurosciences Research Group, Royal Hospital for Children & School of Medicine, University of Glasgow, Glasgow, United Kingdom; Department of Pediatrics, Amalia Children's Hospital, Radboud Centre for Mitochondrial Medicine, Radboud University Medical Center, Nijmegen, Netherlands |
Coughlin, C.R., II, Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado Anschutz Medical Campus, Aurora, CO, United States; Tseng, L.A., Department of Pediatrics Emma Children's Hospital, Amsterdam University Medical Centre, Amsterdam, Netherlands; Abdenur, J.E., Division of Metabolic Disorders, CHOC Children's Hospital, Orange, CA, United States; Ashmore, C., Birmingham Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom; Boemer, F., Department of Human Genetics, Centre Hospitalier Universitaire Sart-Tilman, Liège, Belgium; Bok, L.A., Department of Pediatrics and Neonatology, Máxima Medical Center, Veldhoven, Netherlands; Boyer, M., Division of Metabolic Disorders, CHOC Children's Hospital, Orange, CA, United States; Buhas, D., Division of Medical Genetics, Department of Specialized Medicine, Montreal Children's Hospital, McGill University Health Centre, Québec, Canada; Clayton, P.T., Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, United Kingdom; Das, A., Clinic for Paediatric Kidney, Liver, and Metabolic Diseases, Hannover Medical School, Hannover, Germany; Dekker, H., VKS: Dutch Patient Organization for Metabolic Diseases, Zwolle, Netherlands; Evangeliou, A., Division of Child Neurology and Inherited Metabolic Disorders, 4th Department of Pediatrics, Aristotle University of Thessaloniki, General Hospital Papageorgiou, Thessaloniki, Greece; Feillet, F., Reference Center for Inborn Errors of Metabolism, Pediatric Unit, University Hospital of Nancy, Nancy, France, INSERM UMR S 1256, Nutrition, Genetics, and Environmental Risk Exposure (NGERE), Faculty of Medicine of Nancy, University of Lorraine, Nancy, France; Footitt, E.J., Department of Metabolic Paediatrics, Great Ormond Street Hospital, London, United Kingdom; Gospe, S.M., Jr., Division of Pediatric Neurology, Departments of Neurology and Pediatrics, University of Washington, Seattle, WA, United States, Department of Pediatrics, Duke University, Durham, NC, United States; Hartmann, H., Clinic for Paediatric Kidney, Liver, and Metabolic Diseases, Hannover Medical School, Hannover, Germany; Kara, M., Department of Pediatrics, University of Tripoli, Tripoli, Libyan Arab Jamahiriya; Kristensen, E., National Management of Newborn Screening and Advanced Laboratory Diagnostics in Inborn Errors of Metabolism, Department of Children and Adolescent Medicine, Oslo University Hospital, Oslo, Norway; Lee, J., Department of Metabolic Medicine, The Royal Children's Hospital, Melbourne, VIC, Australia; Lilje, R., Department of Children and Adolescent Medicine, Oslo University Hospital, Oslo, Norway; Longo, N., Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, UT, United States; Lunsing, R.J., Department of Neurology, University Medical Center Groningen, University of Groningen, Groningen, Netherlands; Mills, P., Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, United Kingdom; Papadopoulou, M.T., Division of Child Neurology and Inherited Metabolic Disorders, 4th Department of Pediatrics, Aristotle University of Thessaloniki, General Hospital Papageorgiou, Thessaloniki, Greece; Pearl, P.L., Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States; Piazzon, F., Neurometabolic Clinic, Children's Institute, University of Sao Paulo, Brazil; Plecko, B., Division of General Pediatrics, Department of Pediatrics and Adolescent Medicine, Medical University of Graz, Graz, Austria; Saini, A.G., Pediatric Neurology Unit, Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India; Santra, S., Birmingham Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom; Sjarif, D.R., Department of Child Health, Faculty of Medicine, Universitas Indonesia, Jakarta, Indonesia; Stockler-Ipsiroglu, S., Division of Biochemical Genetics, BC Children's Hospital, University of British Columbia, Vancouver, BC, Canada; Striano, P., Pediatric Neurology and Muscular Diseases Unit, IRCCS “G. Gaslini” Institute, Genoa, Italy, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, Genoa, Italy; Van Hove, J.L.K., Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado Anschutz Medical Campus, Aurora, CO, United States; Verhoeven-Duif, N.M., Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands; Wijburg, F.A., Department of Pediatrics Emma Children's Hospital, Amsterdam University Medical Centre, Amsterdam, Netherlands; Zuberi, S.M., Paediatric Neurosciences Research Group, Royal Hospital for Children & School of Medicine, University of Glasgow, Glasgow, United Kingdom; van Karnebeek, C.D.M., Department of Pediatrics Emma Children's Hospital, Amsterdam University Medical Centre, Amsterdam, Netherlands, Department of Pediatrics, Amalia Children's Hospital, Radboud Centre for Mitochondrial Medicine, Radboud University Medical Center, Nijmegen, Netherlands |
Pyridoxine-dependent epilepsy (PDE-ALDH7A1) is an autosomal recessive condition due to a deficiency of α-aminoadipic semialdehyde dehydrogenase, which is a key enzyme in lysine oxidation. PDE-ALDH7A1 is a developmental and epileptic encephalopathy that was historically and empirically treated with pharmacologic doses of pyridoxine. Despite adequate seizure control, most patients with PDE-ALDH7A1 were reported to have developmental delay and intellectual disability. To improve outcome, a lysine-restricted diet and competitive inhibition of lysine transport through the use of pharmacologic doses of arginine have been recommended as an adjunct therapy. These lysine-reduction therapies have resulted in improved biochemical parameters and cognitive development in many but not all patients. The goal of these consensus guidelines is to re-evaluate and update the two previously published recommendations for diagnosis, treatment, and follow-up of patients with PDE-ALDH7A1. Members of the International PDE Consortium initiated evidence and consensus-based process to review previous recommendations, new research findings, and relevant clinical aspects of PDE-ALDH7A1. The guideline development group included pediatric neurologists, biochemical geneticists, clinical geneticists, laboratory scientists, and metabolic dieticians representing 29 institutions from 16 countries. Consensus guidelines for the diagnosis and management of patients with PDE-ALDH7A1 are provided. © 2020 SSIEM |
ALDH7A1; alpha aminoadipic semialdehyde; consensus guidelines; pyridoxine-dependent epilepsy; pyridoxine-responsive seizures |
aminoadipate semialdehyde dehydrogenase; arginine; pipecolic acid; pyridoxine; aldehyde dehydrogenase; arginine; lysine; pyridoxine; ALDH7A1 gene; apnea; Article; autosomal recessive disorder; coma; developmental delay; developmental screening; diet restriction; diet supplementation; epilepsy; gene; gene mutation; genetic screening; heterozygote detection; homocystinuria; human; hyperargininemia; incidence; infantile spasm; intellectual impairment; lumbar puncture; lysine restricted diet; MELAS syndrome; peripheral neuropathy; prenatal diagnosis; protein restriction; pyridoxine dependent epilepsy; recommended drug dose; sensory neuropathy; urea cycle disorder; consensus; dietary supplement; epilepsy; international cooperation; practice guideline; Aldehyde Dehydrogenase; Arginine; Consensus |
John Wiley and Sons Inc |
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