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Behandlung einer akuten monoblastären Leukämie bei einem Säugling mit einer Glutarazidurie Typ I

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Zusammenfassung

Bei der Glutarazidurie Typ I (GA I) handelt es sich um eine autosomal-rezessiv vererbte Störung des Lysin-, Hydroxylysin und Tryptophanabbaus, bedingt durch einen Mangel des Enzyms Glutaryl-CoA-Dehydrogenase (GDH). Betroffene Kinder entwickeln meist im 3.–6. Lebensmonat unspezifische neurologische Symptome und eine Makrozephalie. Im Rahmen von katabolen Stoffwechsellagen kommt es zu enzephalopathischen Krisen mit nur partiell reversibler Verschlechterung des neurologischen Status. Wir berichten über ein inzwischen 4-jähriges Mädchen mit GA I, welches im Alter von 8 Monaten an einer akuten monoblastären Leukämie erkrankte und einer adäquaten Chemotherapie nach aktuellem Standard unterzogen wurde. Trotz erhöhten Risikos durch katabole Situationen bei Infektionen konnten enzephalopathische Krisen mittels hochkalorischer, lysin- und tryptophanreduzierter Diät und Karnitinsubstitution erfolgreich vermieden werden.

Abstract

Glutaric aciduria type 1 (GA1) is caused by an inherited deficiency of the enzyme glutaryl coenzyme A dehydrogenase (GDH) involved in the degradation of lysine, hydroxylysine, and tryptophan. Affected infants develop unspecific neurological symptoms and macrocephaly. Deterioration of the neurological status, so-called encephalopathic crisis can be triggered by catabolism and is usually incompletely reversible. We report on a 4-year-old girl with GA1 who presented with acute monoblastic leukemia at the age of 8 months. She was treated with combination chemotherapy according to current standards. Despite the elevated risk of metabolic imbalance during infections in neutropenia, encephalopathy crises could be avoided by reduced intake of lysine and tryptophan, a high-energy diet, and supplementation with carnitine.

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Danksagung

Wir danken Herrn Dr. J. Zschocke (Universitätskinderklinik Heidelberg) für hilfreiche Diskussionen und die Bestimmung der Glutarsäure.

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Authors and Affiliations

  1. Abt. Hämatologie und Onkologie, Justus-Liebig-Universität Gießen

    M. Neugebauer,  W. Wößmann, R. Blütters-Sawatzki & A. Reiter

  2. Abt. Kinderkardiologie, Zentrum für Kinderheilkunde, Justus-Liebig-Universität Gießen

    J. Kreuder

  3. Abt. Hämatologie und Onkologie, Universitätskinderklinik der Justus-Liebig-Universität Gießen, Feulgenstraße 12, 35392 , Gießen

    W. Wößmann

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  1. M. Neugebauer
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  2. W. Wößmann
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  3. R. Blütters-Sawatzki
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  4. J. Kreuder
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  5. A. Reiter
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Correspondence to W. Wößmann.

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Neugebauer, M., Wößmann, W., Blütters-Sawatzki, R. et al. Behandlung einer akuten monoblastären Leukämie bei einem Säugling mit einer Glutarazidurie Typ I. Monatsschr Kinderheilkd 151, 727–731 (2003). https://doi.org/10.1007/s00112-002-0486-z

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