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The first use of N-carbamylglutamate in a patient with decompensated maple syrup urine disease

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Abstract

Maple syrup urine disease (MSUD) is a defect in the catabolism of the branched-chain amino acids; leucine, isoleucine, and valine. Affected patients may also develop hyperammonaemia of unknown etiology. This report describes a four-year-old girl with MSUD, who presented with decompensated hyperleucinaemia with hyperammonaemia. The oral administration of the N-acetylglutamate analogue, N-carbamylglutamate (NCG), 200 mg/kg/day as a loading dose, and 100 mg/kg/day as a maintenance dose, in combination with standard therapy resulted in a significant decrease of plasma ammonia levels. This observation suggests that NCG may be an important adjunct to standard therapy in the management of decompensated MSUD patients with high leucine and ammonia levels. Supportive evidence from either randomized controlled trials or a large prospective cohort study is needed to confirm this interesting finding.

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Abbreviations

MSUD:

Maple Syrup Urine Disease

NCG:

N-carbamylglutamate

NAA:

N-acetyl aspartate

KIC:

2-ketoisocaproate

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Authors and Affiliations

  1. Department of Pediatrics, Ege University Medical Faculty, Izmir, Turkey

    Sema Kalkan Ucar, Mahmut Coker, Eylem Ulas Saz & Bulent Karapinar

  2. Department of Biochemistry, Ege University Medical Faculty, Izmir, Turkey

    Sara Habif

  3. Department of Radiology, Ege University Medical Faculty, Izmir, Turkey

    Hakan Ucar & Omer Kitis

  4. Laboratory of Genetic Metabolic Diseases, Department of Clinical Chemistry and Paediatrics, University of Amsterdam, Academic Medical Centre, Amsterdam, The Netherlands

    Marinus Duran

  5. Ege University Medical Faculty, Department of Pediatric Endocrinology and Metabolism, 124 Sok, No=5, D=25, EVKA-3, Bornova, 35100, Izmır, Turkey

    Sema Kalkan Ucar

Authors
  1. Sema Kalkan Ucar
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  2. Mahmut Coker
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  3. Sara Habif
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  4. Eylem Ulas Saz
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  5. Bulent Karapinar
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  6. Hakan Ucar
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  7. Omer Kitis
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  8. Marinus Duran
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Correspondence to Sema Kalkan Ucar.

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Kalkan Ucar, S., Coker, M., Habif, S. et al. The first use of N-carbamylglutamate in a patient with decompensated maple syrup urine disease. Metab Brain Dis 24, 409–414 (2009). https://doi.org/10.1007/s11011-009-9155-4

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  • DOI: https://doi.org/10.1007/s11011-009-9155-4

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