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Neurocognitive profiles in MSUD school-age patients

  • Original Article
  • Published:
Journal of Inherited Metabolic Disease

Abstract

Maple syrup urine disease (MSUD), an inborn error of amino acids catabolism is characterized by accumulation of branched chain amino acids (BCAAs) leucine, isoleucine, valine and their corresponding alpha-ketoacids. Impact on the cognitive development has been reported historically, with developmental delays of varying degree. Currently, earlier diagnosis and improved management allow a better neurodevelopment, without requirement of special education. However, specific impairments can be observed, and so far, results of detailed neurocognitive assessments are not available. The aim of this study was to analyse neurocognitive profiles of French MSUD patients. This was a multicentre retrospective study on MSUD patients who underwent neurocognitive evaluation at primary school age. Twenty-one patients with classical neonatal onset MSUD were included. The patients’ mean age at the time of evaluation was 8.7 years. The mean intellectual quotient (IQ) score was in the normal range (95.1 ± 12.6). In a subset of eight patients, a consistent developmental pattern of higher verbal than performance IQ was observed (mean of the difference 25.7 ± 8.7, p < 0.0001). No correlation could be established between this pattern and long-term metabolic balance (BCAA blood levels), or severity of acute metabolic imbalances, or leucine blood levels at diagnosis and time to toxin removal procedure. These data show that some MSUD patients may exhibit an abnormal neurocognitive profile with higher verbal than performance abilities. This might suggest an executive dysfunction disorder that would need to be further investigated by specialized testing. This pattern is important to detect in MSUD, as appropriate neuropsychological treatment strategies should be proposed.

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Author information

Author notes

  1. Juliette Bouchereau and Julie Leduc-Leballeur contributed equally to this work.

Authors and Affiliations

  1. Reference Centre for Inborn Errors of Metabolism, Robert Debré University Hospital, APHP, 48 boulevard Sérurier, 75019, Paris, France

    Juliette Bouchereau, Julie Leduc-Leballeur, Samia Pichard, Hélène Ogier de Baulny & Manuel Schiff

  2. Biochemistry Department, Robert Debré University Hospital, APHP, Paris, France

    Apolline Imbard & Jean-François Benoist

  3. Robert Debré University Hospital, PROTECT, INSERM U1141, University Paris Diderot, Sorbonne Paris Cité, Paris, France

    Apolline Imbard, Jean-François Benoist & Manuel Schiff

  4. Reference Centre for Inborn Errors of Metabolism, Necker University Hospital, APHP, Paris, France

    Marie-Thérèse Abi Warde, Jean-Baptiste Arnoux, Valérie Barbier, Anaïs Brassier & Pascale de Lonlay

  5. Metabolic Disease Department, Children University Hospital, Toulouse, France

    Pierre Broué & Guy Touati

  6. Reference Centre for Inborn Errors of Metabolism, La Timone University Hospital, APHM, Marseille, France

    Aline Cano, Brigitte Chabrol & Laetitia Paermentier

  7. Pediatrics Department, Hôpital Nord, Saint-Etienne University Hospital, Saint-Etienne, France

    Gilles Damon & Claire Gay

  8. SESSAD Arc en ciel, Le Barp, France

    Isabelle Guillain

  9. Biochemistry Department, Necker University Hospital, APHP, Paris, France

    Florence Habarou & Chris Ottolenghi

  10. INSERM UMR-S 1124, University Paris Descartes, Paris, France

    Florence Habarou, Chris Ottolenghi & Pascale de Lonlay

  11. Pediatrics Department, Bordeaux University Pellegrin Hospital, Bordeaux, France

    Delphine Lamireau

  12. Biochemistry Department, Institut Fédératif de Biologie, Purpan University Hospital, Toulouse, France

    Frédérique Sabourdy

  13. INSERM UMR1037, Toulouse III University, Toulouse, France

    Frédérique Sabourdy

Authors
  1. Juliette Bouchereau
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  2. Julie Leduc-Leballeur
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  3. Samia Pichard
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  4. Apolline Imbard
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  5. Jean-François Benoist
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  6. Marie-Thérèse Abi Warde
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  7. Jean-Baptiste Arnoux
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  8. Valérie Barbier
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  9. Anaïs Brassier
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  10. Pierre Broué
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  11. Aline Cano
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  12. Brigitte Chabrol
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  13. Gilles Damon
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  14. Claire Gay
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  15. Isabelle Guillain
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  16. Florence Habarou
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  17. Delphine Lamireau
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  18. Chris Ottolenghi
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  19. Laetitia Paermentier
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  20. Frédérique Sabourdy
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  21. Guy Touati
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  22. Hélène Ogier de Baulny
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  23. Pascale de Lonlay
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  24. Manuel Schiff
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Corresponding author

Correspondence to Manuel Schiff.

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Communicated by Ertan Mayatepek

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Bouchereau, J., Leduc-Leballeur, J., Pichard, S. et al. Neurocognitive profiles in MSUD school-age patients. J Inherit Metab Dis 40, 377–383 (2017). https://doi.org/10.1007/s10545-017-0033-7

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  • DOI: https://doi.org/10.1007/s10545-017-0033-7

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