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Stoffwechselerkrankungen des Nervensystems

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Klinische Neurologie

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Zusammenfassung

Stoffwechselerkrankungen können sich klinisch auf verschiedene Weise präsentieren:

  • Die Kinder entwickeln sich zunächst normal und erleiden dann einen plötzlichen Entwicklungs-knick. Diese Form ist am leichtesten zu diagnostizieren.

  • Die Entwicklungsstörung verläuft schleichend und ist v.a. für die nächsten Bezugspersonen anfänglich nicht nachvollziehbar.

  • Die Kinder kommen im Rahmen einer akuten Stoffwechselkrise erstmals ins Krankenhaus.

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Literatur

Zitierte Literatur

  • Aicardi J (1992) Diseases of the nervous system in childhood (clinics in developmental medicine, Nr. 115–118). Mac Keith, London, p 381

    Google Scholar 

Weiterführende Literatur

  • Adams RD, Victor M, Ropper AH (1997) Principles of neurology, 6th edn. McGraw-Hill, London

    Google Scholar 

  • Aubourg P, Blanche S, Jambaqué E et al. (1990) Reversal of early neurologic and neuroradiologic manifestations of x-linked adrenoleukodystrophy by bone marrow transplantation. N Engl J Med 322:1860–1866

    Article  PubMed  CAS  Google Scholar 

  • Berginer VM, Salen G, Shefer S (1984) Longterm treatment of cerebrotendinous xanthomatosis with chenodeoxycholic acid. N Engl J Med 311:1649–1652

    Article  PubMed  CAS  Google Scholar 

  • Boedecker HJ, Mellmann WJ, Tedesco TA, Croce CM (1975) Assignment of the human gene for hex B to chromosome 5. Exp Cell Res 93:468

    Article  PubMed  CAS  Google Scholar 

  • Brady RO, Barton NW, Grabowski GA (1993) The role of neurogenetic in Gaucher disease. Arch Neurol 50:1212–1224

    Article  PubMed  CAS  Google Scholar 

  • Bravermann N, Steel G, Obie C, Moser A, Moser H, Gould SJ, Valle D (1997) Human PEX7 encodes the peroxisomal PTS2 receptor and is reponsible for rhizomelic chondrodysplasia punctata. Nat Genet 15: 369–376

    Article  Google Scholar 

  • Brusilow SW, Maestri NE (1996) Urea cycle disorders: diagnosis, pathophysiology and treatment. Adv Pediatr 46:127–170

    Google Scholar 

  • Deufel T, Mönch E, Paetzke I, Przyrembel H, Wendel U, Willichowski E (1996) Diagnostik und Therapie von mitochondrialen (Encephalo-) Myopathien. Empfehlungen der Arbeitsgemeinschaft „Pädiatrische Stoffwechselstörungen“. Monatsschr Kinderheilkd: 765–768

    Google Scholar 

  • De Vivo DC, Garcia-Alvarez M, Ronen G, Trifiletti G (1995) Glucose transport protein deficiency: An emerging syndrome with therapeutic implications. Int Pediatr 10/1: 51–56

    Google Scholar 

  • Ehlen C, Heintges T, Niederau C (1995) Diagnose und Therapie des Morbus Gaucher. Med Klein 90/5: 284–290

    CAS  Google Scholar 

  • Fernandez J, Saudubray JM, Berghe D van den (eds) (1996) Inborn metabolic diseases. Diagnosis and treatment, 2nd edn. Springer, Berlin Heidelberg New York Tokyo

    Google Scholar 

  • Gärtner J, Moser H, Walle D (1992) Mutations in the 70 K peroxisomal membrane protein gene in Zellweger syndrome. Nat Genet 1:16–22

    Article  PubMed  Google Scholar 

  • Goebel HH (1997) Morphologic diagnosis in neuronal ceroid lipofuscinosis. Neuropediatrics 28:67–69

    Article  PubMed  CAS  Google Scholar 

  • Goebel HH, Bode G, Caesar R, Kohlschütter A (1981) Bulbar palsy with Rosenthal fiber formation in the medulla of a 15-year old girl. Localized form of Alexander’s-Disease? Neuropediatrics 12: 382–391

    Article  PubMed  CAS  Google Scholar 

  • Haltia M, Santavuori P (eds) (1997) NCL-Proceedings. Sixth International Congress on Neuronal Ceroid-Lipofuscinosis, Gustavelund, Finnland, June 8–11, 1996. Neuropediatrics 28:1–84

    Google Scholar 

  • Hanefeld F, Holzbach O, Kruse B, Wilichowski E, Christen HJ, Frahm NJ (1993) Diffuse white matter disease in three children: An encephalopathy with unique features on magnetic resonance imaging and proton magnetic resonance spectroscopy. Neuropediatrics 24:244–248

    Article  PubMed  CAS  Google Scholar 

  • Harden A, Pampiglione G (1982) Neurophysiological studies (EEG/ERG/VEP/SEP) in 88 children with so called neuronal ceroid lipofuscinosis. In: Armstrong D, Koppang N, Redor JH (eds) Ceroidlipofuscinosis (Batten’s disease). Lefevier, Amsterdam, pp 61–70

    Google Scholar 

  • Hyland K, Surtees RAH, Rodeck C, Clayton PT (1980) Aromatic L-amino acid decarboxylase deficiency. Neurology 42: 1980–1988

    Google Scholar 

  • Hyland K, Buist NRM, Powell BR, Hoffman GF, Rating D, McGrath J, Acworth IN (1995) Folinic acid responsive seizures: a new syndrome? J Inher Metab Dis 18: 177–181

    Article  PubMed  CAS  Google Scholar 

  • Ichinose H, Ohye T, Takahashi E et al. (1994) Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene. Nat Genet 8: 236–242

    Article  PubMed  CAS  Google Scholar 

  • Jaeken J, Carchon H (1993) The carbohydrate-deficient glycoprotein syndromes: An overview. J Inher Metab Dis 16: 813–820

    Article  PubMed  CAS  Google Scholar 

  • Jaeken J, Detheux M, Mandergem L van et al. (1996) 3-Phos-phoglycerate dehydrogenase deficiency and 3-phospho-serine phosphatase deficiency: Inborn errors of serine biosynthesis. J Inher Metab Dis 19:223–226

    Article  PubMed  CAS  Google Scholar 

  • Kobayashi Y, Momoi MY, Tominaga K et al. (1990) A point mutation in the mitocondrial tRNAleu (UUR) gene in MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke like episodes). Biochem Biophys Res Commun 173:816–822

    Article  PubMed  CAS  Google Scholar 

  • Lalley PA, Rattazzi MC, Shows TB (1974) Human β-D-N-Acetylhexosaminidase A and B: Expression and linkage relationships in somatic cell hybrids. Proc Nat Acad Sci USA 71:1569

    Article  PubMed  CAS  Google Scholar 

  • Matthijs G, Schollen E, Pardon E, Veiga Da Cunha M, Jaeken J, Cassiman JJ, Schaftingen E van (1997) Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome). In: Menkes JH (ed) Textbook of child-neurology, 4th edn. Lea & Febiger, Philadelphia

    Google Scholar 

  • Moser AB, Borel J, Odone A, Naidu S, Cornblath D, Sanders DB, Moser HW (1987) A new dietary therapy for adrenoleuko-dystrophy: biochemical and preliminary clinical results in 36 patients. Ann Neurol 21:240–249

    Article  PubMed  CAS  Google Scholar 

  • Motley AM, Hettema EH, Hogenhout EM et al. (1997) Rhizo-melic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor. Nat Genet 15: 377–380

    Article  PubMed  CAS  Google Scholar 

  • Schindler D, Bishop TF, Wolfe DE, Wang AW, Egge H, Lemieux RO, Desnick RJ (1989) Neuroaxonal dystrophy due to lysosomal N-acetyl-galactose-aminidase-deficiency. N Engl J Med 320:1735–1740

    Article  PubMed  CAS  Google Scholar 

  • Scriver CR, Beaudet AL, Sly WS, Valle D (eds) (1995) The metabolic and molecular bases of inherited disease, 7th edn. Mc Graw-Hill, London

    Google Scholar 

  • Segawa M, Hosaka A, Miyagawa F, Noumora Y, Imai H (1976) Hereditary progressive dystonia with marked diurnal fluctuation. Adv Neurol 14: 215–233

    PubMed  CAS  Google Scholar 

  • Sharp JD, Wheeler RB, Lake BD et al. (1997) Loci for classical and a variant late infantile neuronal ceroid lipofuscinosis map to chromosomes 1 lp15 and 15q21–23. Hum Mol Genet 6:591–595

    Article  PubMed  CAS  Google Scholar 

  • Simmonds HA (1996) Purine and pyrimidine disorders. In: Blau N, Duran M, Blaskovics M (eds) A Physician’s Guide to Laboratory Diagnosis of Inherited Metabolic Disease. Chapter 21, pp 341–356

    Google Scholar 

  • Stöckler S, Holzbach U, Hanefeld F et al. (1994) Creatine deficiency in the brain: A new, treatable inborn error of metabolism. Pediatric Res 36/3:409–413

    Article  Google Scholar 

  • Stöckler S, Hanefeld F, Frahm J (1996) Creatine replacement therapy in guanidinoacetate methyltransferase deficiency, a novel inborn error of metabolism. Lancet 348: 789–790

    Article  PubMed  Google Scholar 

  • Taylor TD, Litt M, Kramer P (1996) Homozygosity mapping of Hallervorden-Spatz syndrome to chromosome 20pl.3-pl3. Nat Genet 14:479–481

    Article  PubMed  CAS  Google Scholar 

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Authors
  1. G. Göhlich-Ratmann
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  2. T. Voit
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Editor information

Editors and Affiliations

  1. Klinik für Neurologie mit Klinischer Neurophysiologie, Alfried-Krupp-Krankenhaus, Alfried-Krupp-Straße 21, D-45131, Essen, Deutschland

    Peter Berlit

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© 1999 Springer-Verlag Berlin Heidelberg

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Göhlich-Ratmann, G., Voit, T. (1999). Stoffwechselerkrankungen des Nervensystems. In: Berlit, P. (eds) Klinische Neurologie. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-08118-1_46

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  • DOI: https://doi.org/10.1007/978-3-662-08118-1_46

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-662-08119-8

  • Online ISBN: 978-3-662-08118-1

  • eBook Packages: Springer Book Archive

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