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2014 | OriginalPaper | Buchkapitel

13. Epilepsien bei Stoffwechselerkrankungen

verfasst von : Prof. Dr. B. Neubauer, PD Dr. A. Hahn

Erschienen in: Dooses Epilepsien im Kindes- und Jugendalter

Verlag: Springer Berlin Heidelberg

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Zusammenfassung

Stoffwechselerkrankungen sind nur äußerst selten Ursache von Epilepsien. Dennoch ist die Kenntnis dieser Krankheitsbilder essenziell, da für einige Formen gut wirksame Therapieoptionen in Form von Substratreduktion (z. B. Phenylketonurie), Supplementierung fehlender Stoffwechselprodukte (z. B. Vitamin-B₆-abhängige Anfälle) oder Bereitstellung alternativer Energieträger (z. B. Glukose-Transporter-Defekt) verfügbar sind. Zerebrale Anfälle können Hauptsymptom eines Stoffwechseldefektes (z. B. Vitamin-B₆-abhängige Anfälle) sein oder lediglich in Form von Gelegenheitsanfällen bei akuten Stoffwechselentgleisungen (z. B. Hyperammonämie bei Harnstoffzyklusdefekt) auftreten (Hyland 2005).

Aicardi J (1998) Diseases of the nervous system in childhood. MacKeith, London, UK

Andermann E, Andermann F, Carpenter S et al (1986) Action myoclonus-renal failure syndrome: a previously unrecognized neurological disorder unmasked by advances in nephrology. Adv Neurol 43:87–103PubMed

Bagci S, Zschocke J, Hoffmann GF et al. (2008) Pyridoxal phosphate- dependent neonatal epileptic encephalopathy. Arch Dis Child Fetal Neonatal Ed93: F151–152

Baxter P, Griffiths P, Kelly T, Gardner-Medwin D (1996) Pyridoxine- dependent seizures: demographic, clinical, MRI and psychometric features, and effect of dose on intelligence quotient. Dev Med Child Neurol 38:998–1006CrossRefPubMed

Berkovic SF, Dibbens LM, Oshlack A et al (2008) Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis. Am J Hum Genet 82:673–684CrossRefPubMedPubMedCentral

Brockmann K (2009) The expanding phenotype of GLUT1- deficiency syndrome. Brain Development 31:545–552CrossRefPubMed

Chien YH, Hsu CC, Huang A et al (2004) Poor outcome for neonatal-type nonketotic hyperglycinemia treated with high-dose sodium benzoate and dextromethorphan. J Child Neurol 19:39–42CrossRefPubMed

de Koning TJ (2006) Treatment with amino acids in serine deficiency disorders. J Inherit Metab Dis 29:347–351CrossRefPubMed

Delgado-Escueta AV, Ganesh S, Yamakawa K (2001) Advances in the genetics of progressive myoclonus epilepsy. Am J Med Genet 106:129–138CrossRefPubMed

Delgado-Escueta AV (2007) Advances in lafora progressive myoclonus epilepsy. Curr Neurol Neurosci Rep 7:428–433CrossRefPubMed

De Vivo DC, , Trifiletti RR, , Jacobson RI et al. (1991) Defective glucose transport across the blood-brain barrier as a cause of persistent hypoglycorrhachia, seizures, and developmental delay. N Engl J Med 325: 703–709

Ebberink MS, Mooijer PA, Gootjes J et al (2011) Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder. Hum Mutat 32:59–69CrossRefPubMed

Enns GM (2008) Neurologic damage and neurocognitive dysfunction in urea cycle disorders. Semin Pediatr Neurol 15:132–139CrossRefPubMed

Footitt EJ, Heales SJ, Mills PB et al (2011) Pyridoxal 5’-phosphate in cerebrospinal fluid; factors affecting concentration. J Inherit Metab Dis 34:529–538CrossRefPubMed

Gallagher RC, Van Hove JL, Scharer G et al (2009) Folinic acid-responsive seizures are identical to pyridoxinedependent epilepsy. Ann Neurol 65:550–556CrossRefPubMed

Genton P, Gélisse P (2000) Antimyoclonic effect of levetiracetam. Epileptic Disord 2:209–212PubMed

Genton P, Malafosse A, Moulard B et al. (2002) Progressive myoclonus epilepsies. In: Roger J, Bureau M, Dravet C, Genton P, Tassinari CA, Wolf P (eds) Epileptic syndromes in infancy, childhood and adolescence. John Libbey & #x0026; Co Ltd.

Goebel HH, Wisniewski KE (2004) Current state of clinical and morphological features in human NCL. Brain Pathol 14:61–69CrossRefPubMed

Gourfinkel-An I, Duyckaerts C, Camuzat A et al (2007) Clinical and neuropathologic study of a French family with a mutation in the neuroserpin gene. Neurology 69:79–83CrossRefPubMed

Gropman AL, Summar M, Leonard JV (2007) Neurological implications of urea cycle disorders. J Inherit Metab Dis 30:865–879CrossRefPubMedPubMedCentral

Hahn A, Schänzer A, Neubauer BA et al (2011) MERRF-Like Phenotype Associated with a Rare Mitochondrial tRNAIle Mutation (m.4284 G>A). Neuropediatrics 42:148–151CrossRefPubMed

Hahn A (2014) Metabolische Epilepsien im Kindes- und Jugendalter. Z Epileptol, im Druck

Hamosh A, Maher JF, Bellus GA, Rasmussen SA, Johnston MV (1998) Long-term use of high-dose benzoate and dextromethorphan for the treatment of nonketotic hyperglycinemia. J Pediatr 132:709–713CrossRefPubMed

Hitzert MM, Bos AF, Bergman KA et al (2012) Favorable outcome in a newborn with molybdenum cofactor type A deficiency treated with cPMP. Pediatrics 130:e1005–e1010CrossRefPubMed

Horvath R, Hudson G, Ferrari G et al (2006) Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. Brain 129:1674–1684CrossRefPubMed

Hyland K (2005) Inborn errors of metabolism in infantile epilepsies. Neuropediatrics 36:57–60

Hyland K, Shoffner J, Heales SJ (2010) Cerebral folate deficiency. J Inherit Metab Dis 33:563–570CrossRefPubMed

Jaeken J (2010) Congenital disorders of glycosylation. Ann N Y Acad Sci 1214:190–198CrossRefPubMed

Jalanko A, Braulke T (2009) Neuronal ceroid lipofuscinoses. Biochim Biophys Acta. 1793: 697–709

Jansen AC, Andermann E, Niel F et al (2008) Leucoencephalopathy with vanishing white matter may cause progressive myoclonus epilepsy. Epilepsia 49:910–913CrossRefPubMed

Kaler SG (2011) ATP7A-related copper transport diseasesemerging concepts and future trends. Nat Rev Neurol 7:15–29CrossRefPubMedPubMedCentral

Kälviäinen R, Khyuppenen J, Koskenkorva P et al (2008) Clinical picture of EPM1-Unverricht-Lundborg disease. Epilepsia 49:549–556CrossRefPubMed

Kim BE, Smith K, Petris MJ (2003) A copper treatable Menkes disease mutation associated with defective trafficking of a functional Menkes copper ATPase. J Med Genet 40:290–295CrossRefPubMedPubMedCentral

Klepper J (2008) Glucose transporter deficiency syndrome (GLUT1DS) and the ketogenic diet. Epilepsia 49(Suppl 8):46–49CrossRefPubMed

Klepper J, Voit T (2002) Facilitated glucose transporter protein type 1 (GLUT1) deficiency syndrome: impaired glucose transport into brain – a review. Eur J Pediatr 161:295–304CrossRefPubMed

Livet M-O, Aicardi J, Plouin P, Mancini J, Chabrol B (2002) Epilepsies in inborn errors of metabolism. In: Roger J, Bureau M, Dravet Ch, Genton P, Tassinari CA, Wolf P (eds) Epileptic syndromes in infancy, childhood and adolescence. John Libbey & #x0026; Co

Lehesjoki AE, Gardiner M (2012) Progressive myoclonus epilepsy: Unverricht-Lundborg disease and Neuronal ceroid lipofuscinoses. In: Noebels JL, Avoli M, Rogawski MA, Olsen RW, Delgado-Escueta AV (eds) Jasper's Basic Mechanisms of the Epilepsies [Internet]. 4th edition. National Center for Biotechnology Information (US), Bethesda (MD)

Leimkühler S, Charcosset M, Latour P et al (2005) Ten novel mutations in the molybdenum cofactor genes MOCS1 and MOCS2 and in vitro characterization of a MOCS2 mutation that abolishes the binding ability of molybdopterin synthase. Hum Genet 117:565–570CrossRefPubMed

Mills PB, Struys E, Jakobs C et al (2006) Mutations in antiquitin in individuals with pyridoxine-dependent seizures. Nat Med 12:307–309CrossRefPubMed

Mills PB, Surtees RA, Champion MP et al (2005) Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5’-phosphate oxidase. Hum Mol Genet 14:1077–1086CrossRefPubMed

Milone M, Massie R (2010) Polymerase gamma 1 mutations: clinical correlations. Neurologist 16:84–91CrossRefPubMed

Moslinger D, Muhl A, Suormala T, Baumgartner R, Stockler- Ipsiroglu S (2003) Molecular characterisation and neuropsychological outcome of 21 patients with profound biotinidase deficiency detected by newborn screening and family studies. Eur J Pediatr 162(Suppl 1):S46–S49CrossRefPubMed

Mullen SA, Suls A, De Jonghe P, Berkovic SF, Scheffer IE (2010) Absence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency. Neurology 75:432–440CrossRefPubMed

Mullen SA, Marini C, Suls A et al (2011) Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy. Arch Neurol 68:1152–1155CrossRefPubMed

Pampiglione G, Harden A (1974) An infantile form on neuronal »storage« disease with characteristic evolution of neurophysiological features. Brain 97:355–360CrossRefPubMed

Pampiglione G, Harden A (1973) Neurophysiological identification of a late infantile form of »neuronal lipidosis«. J Neurol Neurosurg Psychiatry 36:68–74CrossRefPubMedPubMedCentral

Pearl PL, Gibson KM, Acosta MT et al (2003) Clinical spectrum of succinic semialdehyde dehydrogenase deficiency. Neurology 60:1413–1417CrossRefPubMed

Pearl PL, Taylor JL, Trzcinski S, Sokohl A (2007) The pediatric neurotransmitter disorders. J Child Neurol 22:606–616CrossRefPubMed

Platt FM, Jeyakumar M (2008) Substrate reduction therapy. Acta Paediatr Suppl 97:88–93CrossRef

Plecko B, Brunner-Krainz M, Gruber-Sedlmayr U, Kortschak A (2005) Epilepsie als Leitsymptom angeborener Stoffwechselstörungen. Mitteilungen der Österreichischen Sektion der Internationalen Liga gegen Epilepsie 5: 2–11

Plecko B, Paschke E, Erwa W (2005) Abklärung angeborener Stoffwechselerkrankungen mit dem Leitsymptom Epilepsie. Mitteilungen der Österreichischen Sektion der Internationalen Liga gegen Epilepsie 5: 12–15

Poll-The BW (2004) Disorders of metabolism and neurodegenerative disorders associated with epilepsy. In: Wallace SJ, Farrell K (eds) Epilepsy in children. Arnold, London, UK

Prasad AN, Rupar CA, Prasad C (2011) Methylenetetrahydrofolate reductase (MTHFR) deficiency and infantile epilepsy. Brain Development 33:758–769CrossRefPubMed

Ranta S, Topcu M, Tegelberg S et al (2004) Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy. Hum Mutat 23:300–305CrossRefPubMed

Rapin I, Goldfischer S, Katzman R, Engel J Jr, O’Brien JS (1978) The cherry-red spot-myoclonus syndrome. Ann Neurol 3:234–242CrossRefPubMed

Rosenblatt DS (2000) Disorders of cobalamin and folate transport and metabolism. In: Fernandes J, Saudubray J-M, van den Berghe G (eds) Inborn metabolic diseases. Springer, Berlin

Salvan AM, Chabrol B, Lamoureux S et al (1999) In vivo brain proton MR spectroscopy in a case of molybdenum cofactor deficiency. Pediatr Radiol 29:846–848CrossRefPubMed

Seidahmed MZ, Alyamani EA, Rashed MS et al (2005) Total truncation of the molybdopterin/dimerization domains of SUOX protein in an Arab family with isolated sulfite oxidase deficiency. Am J Med Genet 136A:205–209CrossRef

Shahwan A, Farrell M, Delanty N (2005) Progressive myoclonic epilepsies: a review of genetic and therapeutic aspects. Lancet Neurol 4:239–248CrossRefPubMed

So N, Berkovic S, Andermann F et al (1989) Myoclonus epilepsy and ragged-red fibres (MERRF). Electrophysiological studies and comparison with other progressive myoclonus epilepsies. Brain 112:1261–1276CrossRefPubMed

Steinfeld R, Grapp M, Kraetzner R et al (2009) Folate receptor alpha defect causes cerebral folate transport deficiency: a treatable neurodegenerative disorder associated with disturbed myelin metabolism. Am J Hum Genet 85:354–363CrossRefPubMedPubMedCentral

Stöckler S, Plecko B, Gospe SM Jr et al (2011) Pyridoxine dependent epilepsy and antiquitin deficiency Clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up. Mol Genet Metab 104:48–60CrossRefPubMed

Stöckler S, Schutz PW, Salomons GS (2007) Cerebral creatine deficiency syndromes: clinical aspects, treatment and pathophysiology. Subcell Biochem 46:149–166CrossRefPubMed

Struys EA (2006) D-2-Hydroxyglutaric aciduria: unravelling the biochemical pathway and the genetic defect. J Inherit Metab Dis 29:21–29CrossRefPubMed

Suls A, Mullen SA, Weber YG et al (2009) Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1. Ann Neurol 66:415–419CrossRefPubMed

Suzuki Y, Yang X, Aoki Y, Kure S, Matsubara Y (2005) Mutations in the holocarboxylase synthetase gene HLCS. Hum Mutat 26:285–290CrossRefPubMed

Tabatabaie L, Klomp LW, Berger R, de Koning TJ (2010) L-serine synthesis in the central nervous system: a review on serine deficiency disorders. Mol Genet Metab 99:256–262CrossRefPubMed

Takahashi Y, Suzuki Y, Kumazaki K et al (1997) Epilepsy in peroxisomal diseases. Epilepsia 38:182–188CrossRefPubMed

Takuma Y (1998) ACTH therapy for infantile spasms: a combination therapy with high-dose pyridoxal phosphate and low-dose ACTH. Epilepsia 39(Suppl 5):42–45CrossRefPubMed

Topc M, Coskun T, Haliloglu G, Saatci I (2001) Molybdenum cofactor deficiency: report of three cases presenting as hypoxic-ischemic encephalopathy. J Child Neurol 16:264–270

Tsao CY (2009) Current trends in the treatment of infantile spasms. Neuropsychiatr Dis Treat 5:289–299CrossRefPubMedPubMedCentral

Tsuji M, Aida N, Obata T et al (2010) A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy. J Inherit Metab Dis 33:85–90CrossRefPubMedPubMedCentral

Tümer Z, Møller LB (2010) Menkes disease. Eur J Hum Genet 18:511–518CrossRefPubMed

Veldman A, Santamaria-Araujo JA, Sollazzo S et al. (2010) Successful treatment of molybdenum cofactor deficiency type A with cPMP. Pediatrics 125: e1249–e1254

Weber P, Scholl S, Baumgartner ER (2004) Outcome in patients with profound biotinidase deficiency: relevance of newborn screening. Dev Med Child Neurol 46:480–484CrossRef

Weller S, Rosewich H, Gärtner J (2008) Cerebral MRI as a valuable diagnostic tool in Zellweger spectrum patients. J Inherit Metab Dis 31:270–280CrossRefPubMed

Wolf NI, Garcia-Cazorla A, Hoffmann GF (2009) Epilepsy and inborn errors of metabolism in children. J Inherit Metab Dis 32:609–617CrossRefPubMed

Titel: Epilepsien bei Stoffwechselerkrankungen
verfasst von: Prof. Dr. B. Neubauer
PD Dr. A. Hahn
Verlag: Springer Berlin Heidelberg
Buch: Dooses Epilepsien im Kindes- und Jugendalter
Print ISBN: 978-3-642-41953-9

Electronic ISBN: 978-3-642-41954-6

Copyright-Jahr: 2014
DOI: https://doi.org/10.1007/978-3-642-41954-6_13

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13. Epilepsien bei Stoffwechselerkrankungen

Zusammenfassung

Neu im Fachgebiet Pädiatrie

Zunahme von Geschlechtsinkongruenz und -dysphorie registriert

Stillende Frauen haben geringeres kardiovaskuläres Risiko

Komplexes Krankheitsbild zwischen Haut und Lunge – und das mit 13 Jahren

Wie toxische Männlichkeit der Gesundheit von Männern schadet

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Springer Medizin

Zusammenfassung

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Neu im Fachgebiet Pädiatrie

Zunahme von Geschlechtsinkongruenz und -dysphorie registriert

Stillende Frauen haben geringeres kardiovaskuläres Risiko

Komplexes Krankheitsbild zwischen Haut und Lunge – und das mit 13 Jahren

Wie toxische Männlichkeit der Gesundheit von Männern schadet

Update Pädiatrie