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Acidurie glutarique de type I

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Prise en charge médicale et diététique des maladies héréditaires du métabolisme

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Résumé

L’acidurie glutarique de type I correspond à un déficit en glutaryl-CoA déshydrogénase (GCDH) impliquée dans le catabolisme de la lysine et du tryptophane [1]. Il s’agit d’une maladie d’intoxication mais aussi d’une maladie énergétique.

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Références

  1. Hedlund GL, Longo N, Pasquali M (2006) Glutaric acidemia type 1. Am J Med Genet C Semin Med Genet 142C: 86–94

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  2. Kolker S, Christensen E, Leonard JV, et al. (2007) Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I). J Inherit Metab Dis 30: 5–22

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Authors and Affiliations

  1. Centre de Référence des maladies héréditaires du métabolisme, Hôpital Necker-Enfants malades, 149, rue de Sèvres, 75743, Paris Cedex 15, France

    Pascale De Lonlay, Sandrine Dubois & Vassili Valayannopoulos

  2. Service de maladies héréditaires du métabolisme, Hôpital Necker-Enfants malades, 149, rue de Sèvres, 75743, Paris Cedex 15, France

    Eliane Depondt

  3. Service de biochimie métabolique Centre de Référence des maladies héréditaires du métabolisme, Hôpital Necker-Enfants malades, 149, rue de Sèvres, 75743, Paris Cedex 15, France

    Chris Ottolenghi & Daniel Rabier

Authors
  1. Pascale De Lonlay
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  2. Sandrine Dubois
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  3. Vassili Valayannopoulos
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  4. Eliane Depondt
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  5. Chris Ottolenghi
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  6. Daniel Rabier
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© 2013 Springer-Verlag France

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De Lonlay, P., Dubois, S., Valayannopoulos, V., Depondt, E., Ottolenghi, C., Rabier, D. (2013). Acidurie glutarique de type I. In: Prise en charge médicale et diététique des maladies héréditaires du métabolisme. Springer, Paris. https://doi.org/10.1007/978-2-8178-0046-2_17

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  • DOI: https://doi.org/10.1007/978-2-8178-0046-2_17

  • Publisher Name: Springer, Paris

  • Print ISBN: 978-2-8178-0045-5

  • Online ISBN: 978-2-8178-0046-2

  • eBook Packages: MedicineMedicine (R0)

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