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Treatable newborn and infant seizures due to inborn errors of metabolism Volume 17, numéro 3, September 2015

  • [Acuna-Hidalgo et al., 2014] Acuna-Hidalgo R., Schanze D., Kariminejad A. Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L serine biosynthesis pathway. Am J Human Genet. 2014;95:285-293.
  • [Aicardi, 1995] Aicardi J. Diseases of the nervous system in childhood. Clinics in development medicine. London: Spastics Society; 1995.
  • [Alessandri et al., 2004] Alessandri M.G., Celan L., Battini R. HPLC assay for guanidinoacetate methyltransferase. Anal Biochem. 2004;331:189-191.
  • [Arzimanoglou et al., 2004] Arzimanoglou A., Guerrini R., Aicardi J. Aicardi's Epilepsy in Children. Philadelphia: Lippincott Williams & Wilkins; 2004. 3rd edition
  • [Bahi-Buisson et al., 2006] Bahi-Buisson N., Kaminska A., Nabbout R. Epilepsy in Menkes disease: analysis of clinical stages. Epilepsia. 2006;47:380-386.
  • [Baxter, 1999] Baxter P. Epidemiology of pyridoxine dependent and pyridoxine responsive seizures in the UK. Arch Dis Child. 1999;81:431-433.
  • [Blau et al., 2011] Blau N., Hennermann J.B., Langenbeck U., Lichter-Konecki U. Diagnosis, classification, and genetics of phenylketonuria and tetrahydrobiopterin (BH4) deficiencies. Mol Genet Metab. 2011;104:S2-9.
  • [Bok et al., 2010] Bok L.A., Been J.V., Struys E.A., Jakobs C., Rijper E.A., Willemsen M.A. Antenatal treatment in two Dutch families with pyridoxine-dependent seizures. Eur J Pediatr. 2010;169:297-303.
  • [Campistol, 2000] Campistol J. Epileptic syndromes in the first year of life and congenital errors of metabolism. Rev Neurol. 2000;30:S60-S74.
  • [Carducci et al., 2000] Carducci C., Leuzzi V., Carducci C., Prudente S., Mercuri L., Antonozzi J. Two new severe mutations causing guanidino acetate methyltransferase deficiency. Mol Genet Metab. 2000;71:633-638.
  • [Cavalleri et al., 2002] Cavalleri F., Berardi A., Burlina A.B., Ferrari F., Mavilla L. Diffusion-weighted MRI of maple syrup urine disease encephalopathy. Neuroradiology. 2002;44:499-502.
  • [Chen et al., 2001] Chen P.T., Young C., Lee W.T., Wang P.J., Peng S.S., Shen Y.Z. Early epileptic encephalopathy with suppression burst electroencephalographic pattern-an analysis of eight Taiwanese patients. Brain Dev. 2001;23:715-720.
  • [Chien et al., 2004] Chien Y.H., Hsu C.C., Huang A. Poor outcome for neonatal-type nonketotic hyperglycinemia treated with high-dose sodium benzoate and dextrometromethorphan. J Child Neurol. 2004;19:39-42.
  • [Ciardo et al., 2001] Ciardo F., Salerno C., Curatolo P. Neurologic aspects of adenylosuccinate lyase deficiency. J Child Neurol. 2001;16:301-308.
  • [Clayton et al., 2003] Clayton P., Surtees R.A.H., De Vile C., Hyland K., Heales S.J.R. Neonatal epileptic encephalopathy. Lancet. 2003;361:1614.
  • [De Vivo et al., 2002] De Vivo D.C., Leary L., Wang D. Glucose transporter 1 deficiency syndrome and other glycolytic defects. J Child Neurol. 2002;17:3S15-23. discussion: 3S24-5
  • [Dinopoulos et al., 2005] Dinopoulos A., Matsubara Y., Kure S. Atypical variants of nonketotic hyperglycinemia. Mol Genet Metab. 2005;86:61-69.
  • [Dulac et al., 2014] Dulac O., Plecko B., Gataulina S., Wolf N. Occasional seizures, epilepsy, and inborn errors of metabolism. Lancet Neurol. 2014;13:727-739.
  • [Footitt et al., 2011] Footitt E.J., Heales S.J., Mills P.B., Allen G.F., Oppenheim M., Clayton P.T. Pyridoxal 5′-phosphate in cerebrospinal fluid; factors affecting concentration. J Inherit Metab Dis. 2011;34:529-538.
  • [Gallagher et al., 2009] Gallagher R.C., Van Hove J.L., Scharer G. Folinic acid responsive seizures are identical to pyridoxine dependent epilepsy. Ann Neurol. 2009;65:550-556.
  • [Gospe, 2010] Gospe S. Neonatal vitamin responsive epileptic encephalopathies. Chang Gung Med J. 2010;33:1-12.
  • [Haberlandt et al., 2009] Haberlandt E., Canestini C., Brunner-Krainz M. Epilepsy in patients with propionic acidemia. Neuropediatrics. 2009;40:120-125.
  • [Hartmann et al., 2011] Hartmann H., Fingerhut M., Jakobs C., Plecko B. Status epilepticus in a neonate treated with pyridoxine because of a familial recurrence risk for antiquitin deficiency: pyridoxine toxicity? Dev Med Child Neurol. 2011;53:1150-1153.
  • [Hyland et al., 1995] Hyland K., Buist N.R., Powell B.R. Folinic acid responsive seizures: a new syndrome? J Inherit Metab Dis. 1995;18:177-181.
  • [Johnson and Duran, 2001] Johnson JL, Duran M. Molybdenum cofactor deficiency and isolated sulphite oxidase deficiency. In: Scriver CR, Beaudet AL, Sly WS, et al. The metabolic and molecular bases of inherited diseases. New York: Mc Graw Hill, 2001: 3136-77.
  • [Jurecka et al., 2014] Jurecka A., Zikanova M., Jurkiewicz E., Tylki-Szymańska A. Attenuated adenylosuccinate lyase deficiency: a report of one case and a review of the literature. Neuropediatrics. 2014;45:50-55.
  • [Kanekar and Byler, 2013] Kanekar S., Byler D. Characteristic MRI findings in neonatal nonketotic hyperglycinemia due to sequence changes in GLDC gene encoding the enzyme glycine decarboxylase. Metab Brain Dis. 2013;28:717-720.
  • [Kanno et al., 2007] Kanno J., Hutchin T., Kamada F. Genomic deletion within GLDC is a major cause of non-ketotic hyperglycinaemia. J Med Genet. 2007;44:e69.
  • [Klepper and Leiendecker, 2013] Klepper J., Leiendecker B. Glut-1 deficiency syndrome and novel ketogenic diets. J Child Neurol. 2013;28:1045-1048.
  • [Korman et al., 2006] Korman S.H., Wexler I.D., Gutman A., Rolland M.O., Kanno J., Kure S. Treatment from birth of nonketotic hyperglycinemia due to a novel GLDC mutation. Ann Neurol. 2006;59:411-415.
  • [Kuo and Wang, 2002] Kuo M.F., Wang H.S. Pyridoxal phosphate-responsive epilepsy with resistance to pyridoxine. Pediatr Neurol. 2002;26:146-147.
  • [Leen et al., 2013] Leen W.G., de Wit C.J., Wevers R.A. Child neurology: differential diagnosis of a low CSF glucose in children and young adults. Neurology. 2013;81:e178-e181.
  • [Leuzzi et al., 2013] Leuzzi V., Mastrangelo M., Battini R., Cioni G. Inborn errors of creatine metabolism and epilepsy. Epilepsia. 2013;54:217-227. 2
  • [Levtova et al., 2013] Levtova A, Laberge AM, Mills P, et al. Normal cerebrospinal fluid pyridoxal 5′-phosphate level in a patient with neonatal-onset epileptic encephalopathy and a homozygous deleterious PNPO mutation. JIMD (abstracts ICIEM 2013) 2013; 3(2).
  • [Marin-Valencia et al., 2010] Marin-Valencia I., Vilaseca M.A., Thio M., Garcia Cazorla A., Artuch R., Campistol J. Assessment of the perimortem protocol in neonates for the diagnosis of inborn errors of metabolism. Eur J Ped Neurol. 2010;14:125-130.
  • [Matsuo et al., 2005] Matsuo M., Tasaki R., Kodama H., Hamasaki Y. Screening for Menkes disease using the urine HVA/VMA ratio. J Inherit Metab Dis. 2005;28:89-93.
  • [Mercimek-Mahmutoglu et al., 2006] Mercimek-Mahmutoglu S., Stöckler S., Adami A. GAMT deficiency: features, treatment and outcome in an inborn error of creatine synthesis. Neurology. 2006;67:480-484.
  • [Mercimek-Mahmutoglu et al., 2012] Mercimek-Mahmutoglu S., Horvath G.A., Coulter-Mackie M. Profound neonatal hypoglycemia and lactic acidosis caused by pyridoxine-dependent epilepsy. Pediatrics. 2012;129:e1368-e1372.
  • [Mercimek-Mahmutoglu et al., 2014] Mercimek-Mahmutoglu S., Cordeiro D., Cruz V. Novel therapy for pyridoxine dependent epilepsy due to ALDH7A1 genetic defect: L-arginine supplementation alternative to lysine-restricted diet. Eur J Paediatr Neurol. 2014;18:741-746. 6
  • [Mills et al., 2005] Mills P.B., Surtees R.A., Champion M.P. Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5′ phosphate oxidase. Hum Mol Genet. 2005;14:1077-1086.
  • [Mills et al., 2006] Mills P.B., Struys E., Jacobs C. Mutations in antiquitin in individuals with pyridoxine dependent seizures. Nat Med. 2006;12:307-309.
  • [Mills et al., 2014] Mills P.B., Camuzeaux S.S., Footitt E.J. Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome. Brain. 2014;137:1350-1360.
  • [Molinari et al., 2005] Molinari F., Raas-Rothschild A., Rio M. Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy. Am J Hum Genet. 2005;76:334-339.
  • [Nicolai et al., 2006] Nicolai J., van Kranen-Masterbroek V.H., Wevers R.A., Hurkx W.A., Vles J.S. Folinic acid responsive seizures initially responsive to pyridoxine. Ped Neurol. 2006;34:164-167.
  • [Nunes et al., 2002] Nunes M.L., Mugnol F., Bica I., Fiori R.M. Pyridoxine-dependent seizures associated with hypophosphatasia in a newborn. J Child Neurol. 2002;17:222-224.
  • [Ormazábal et al., 2008] Ormazábal A., Oppenheim M., Serrano M. Pyridoxal 5′ phosphate values in CSF: reference value and diagnosis of PNPO deficiency in pediatric patients. Mol Genet Metab. 2008;94:173-177.
  • [Pascual, 2007] Pascual J.M. Encephalopathies in neurology and clinical neuroscience. Philadelphia: Mosby. 2007.
  • [Pascual et al., 2004] Pascual J.M., Wang D., Lecumberri B. GLUT-1 deficiency and other glucose transporter diseases. Eur J Endocrinol. 2004;150:627-633.
  • [Pascual et al., 2008] Pascual J., Campistol J., Gil Nagel A. Epilepsy in inherited metabolic disorders. The Neurologist. 2008;14:S1-11.
  • [Plecko, 2013] Plecko B. Pyridoxine and pyridoxalphosphate-dependent epilepsies. Handb Clin Neurol. 2013;113:1811-1817.
  • [Plecko et al., 2000] Plecko B., Stöckler-Ispiroglu S., Paschke E., Erwa W., Struys E.A., Jakobs C. Pipecolic acid elevation in plasma and cerebrospinal fluid of two patients with pyridoxine-dependent epilepsy. Ann Neurol. 2000;48:121-125.
  • [Plecko et al., 2005] Plecko B., Hikel C., Korenke G.C. Pipecolic acid as a diagnostic marker of pyridoxine dependent epilepsy. Neuropediatrics. 2005;36:200-205.
  • [Plecko et al., 2007] Plecko B., Paul K., Paschke E. Biochemical and molecular characterization of 18 patients with pyridoxine dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene. Hum Mutat. 2007;28:19-26.
  • [Plecko et al., 2014] Plecko B., Paul K., Mills P. Pyridoxine responsiveness in novel mutations of the PNPO gene. Neurology. 2014;82:1425-1433.
  • [Porri et al., 2014] Porri S., Fluss J., Plecko B., Paschke E., Korff C.M., Kern I. Positive outcome following early diagnosis and treatment of pyridoxal-5′-phosphate oxidase deficiency: a case report. Neuropediatrics. 2014;45:64-68.
  • [Prasad et al., 2011] Prasad A.N., Levin S., Rupar C.A., Prasad C. Menkes disease and infantile epilepsy. Brain Dev. 2011;33:866-876.
  • [Rakhade and Jensen, 2009] Rakhade S.N., Jensen F.E. Epileptogenesis in the immature brain: emerging mechanisms. Rev Neurol. 2009;5:380-391.
  • [Rankin et al., 2007] Rankin P.M., Harrison S., Chong W.K., Boyd S., Aylett S.E. Pyridoxine-dependent seizures: a family phenotype that leads to severe cognitive deficits, regardless of treatment regime. Dev Med Child Neurol. 2007;49:300-305.
  • [Ruiz et al., 2008] Ruiz A., Garcia Villoria J., Ormazabal A. A new fatal case of pyridoxamine 5′ phosphate oxidase (PNPO) deficiency. Mol Genet Metab. 2008;93:216-218.
  • [Saudubray, 2012] Saudubray JM. Clinical approach to inborn errors of metabolism in paediatrics. In: Saudubray JM, van den Berghe G, Walter JH. Inborn metabolic diseases. 5th edition. Berlin: Springer, 2012; 1: 3-54.
  • [Scharer et al., 2010] Scharer G., Brocker V., Vasiliou G. The genotypic and phenotypic spectrum of pyridoxine dependent epilepsy due to mutations in ALDH7A1. J Inherit Met Dis. 2010;33:571-581.
  • [Schmitt et al., 2010] Schmitt B., Baumgartner M., Mills P.B. Seizures and paroxysmal events: symptoms pointing to the diagnosis of pyridoxine-dependent epilepsy and pyridoxine phosphate oxidase deficiency. Dev Med Child Neurol. 2010;52:e133-e142.
  • [Scriver et al., 2003] Scriver C.R., Beaudet A.L., Sly L., Valle D. The metabolic basis of inherited disease. New York: Mc Graw Hill; 2003.
  • [Sfaello et al., 2000] Sfaello I., Castelnau P., Blanc N., Ogier H., Evrard P., Arzimanoglou A. Infantile spasms and Menkes disease. Epileptic Disord. 2000;2:227-230. 4
  • [Stence et al., 2013] Stence N.V., Coughlin C.R., Fenton L.Z., Thomas J.A. Distinctive pattern of restricted diffusion in a neonate with molybdenum cofactor deficiency. Pediatr Radiol. 2013;43:882-885.
  • [Stöckler et al., 2007] Stöckler S., Schutz K., Salomons G.S. Cerebral creatine deficiency syndromes: clinical aspects, treatment and pathophysiology. Subcell Biochem. 2007;46:149-166.
  • [Stockler et al., 2011] Stockler S., Plecko B., Gospe S. Pyridoxine dependent epilepsy and antiquitin deficiency. Clinical and molecular characteristics and recommendations for diagnosis, treatment and follow up. Mol Genet Metab. 2011;104:48-60.
  • [Struys et al., 2012] Struys E.A., Bok L.A., Emal D., Houterman S., Willemsen M.A., Jakobs C. The measurement of urinary Δ-piperideine-6-carboxylate, the alter ego of α-aminoadipic semialdehyde, in antiquitin deficiency. J Inherit Metab Dis. 2012;35:909-916. 1
  • [Suls et al., 2009] Suls A., Mullen S.A., Weber Y.G. Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1. Ann Neurol. 2009;66:415-419.
  • [Tabatabaie et al., 2010] Tabatabaie L., Klomp L.W., Berger R., de Koning T.J. L-serine synthesis in the central nervous system: a review on serine deficiency disorders. Mol Genet Metab. 2010;99:256-262.
  • [Toribe, 2001] Toribe Y. High-dose vitamin B(6) treatment in West syndrome. Brain Dev. 2001;23:654-657.
  • [Torres et al., 1999] Torres O.A., Miller V.S., Buist N.M., Hyland K. Folinic acid-responsive neonatal seizures. J Child Neurol. 1999;14:529-532.
  • [van der Crabben et al., 2013] van der Crabben S.N., Verhoeven-Duif N.M., Brilstra E.H. An update on serine deficiency disorders. J Inherit Metab Dis. 2013;36:613-619.
  • [van Hove et al., 2005] van Hove J.L., Vande Kerckhove K., Hennermann J.B. Benzoate treatment and the glycine index in nonketotic hyperglycinaemia. J Inherit Metab Dis. 2005;28:651-663.
  • [van Karnebeek et al., 2012] van Karnebeek C.D., Hartmann H., Jaggumantri S. Lysine restricted diet for pyridoxine-dependent epilepsy: first evidence and future trials. Mol Genet Metab. 2012;107:335-344. 3
  • [Veldman et al., 2010] Veldman A., Santamaria-Araujo J.A., Sollazzo S. Successful treatment of molybdenum cofactor deficiency type A with cPMP. Pediatrics. 2010;12:e1249-e1254.
  • [Ware et al., 2014] Ware T.L., Earl J., Salomons G.S. Typical and atypical phenotypes of PNPO deficiency with elevated CSF and plasma pyridoxamine on treatment. Dev Med Child Neurol. 2014;56:498-502. 5
  • [Wilson et al., 2005] Wilson C.J., Myer M., Darlow B.A. Severe holocarboxylase synthetase deficiency with incomplete biotin responsiveness resulting in antenatal insult in samoan neonates. J Pediatr. 2005;147:115-118.
  • [Wolf, 2011] Wolf B. The neurology of biotinidase deficiency. Mol Genet Metab. 2011;104:27-34.
  • [Wolf and Smeitink, 2002] Wolf N.I., Smeitink J.A. Mitochondrial disorders: a proposal for consensus diagnostic criteria in infants and children. Neurology. 2002;59:1402-1405.
  • [Wolf et al., 2005] Wolf N.I., Bast T., Surtees R. Epilepsy in inborn errors of metabolism. Epileptic Disord. 2005;7:67-81.
  • [Wolf et al., 2009] Wolf N.I., Rahman S., Schmitt B. Status epilepticus in children with Alpers’ disease caused by POLG1 mutations: EEG and MRI features. Epilepsia. 2009;50:1596-1607.