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A Rare Cause of Elevated Chitotriosidase Activity: Glycogen Storage Disease Type IV

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JIMD Reports, Volume 17

Part of the book series: JIMD Reports ((JIMD,volume 17))

Abstract

Human chitinolytic enzyme named “chitotriosidase” takes part in the defense mechanism against pathogens and the homeostasis of innate immunity. Chitotriosidase was firstly reported to be markedly high in plasma of patients with Gaucher disease. Abnormal lipid laden macrophages are thought to be responsible for stimulating the secretion of chitotriosidase in Gaucher disease. Subsequently, various disorders have also been found to be associated with elevated levels of chitotriosidase. Chronic liver diseases that are also related with macrophage activation may have elevated chitotriosidase activity. We report the second case of the literature with glycogen storage disease (GSD) type IV that presented with high chitotriosidase levels. GSD type IV should be taken into consideration in case of elevated chitotriosidase levels, stigmas of chronic liver disease, and inconsistency of lysosomal storage diseases.

Competing interests: None declared

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Abbreviations

GSD:

Glycogen storage disease

LSD:

Lysosomal storage disease

NPD:

Niemann-Pick disease

PAS:

Periodic acid-Schiff

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Author information

Authors and Affiliations

  1. Department of Pediatric Gastroenterology, Hepatology and Nutrition, Faculty of Medicine, Hacettepe University, Sihhiye, 06100, Ankara, Turkey

    Hayriye Hizarcioglu-Gulsen, Aysel Yuce, Burcu Berberoglu-Ates & Yusuf Aydemir

  2. Unit of Pediatric Pathology, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Sihhiye, 06100, Ankara, Turkey

    Zuhal Akcoren

  3. Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey

    Erdal Sag

  4. Intergen Genetics Center, Kavaklidere, 06700, Ankara, Turkey

    Serdar Ceylaner

Authors
  1. Hayriye Hizarcioglu-Gulsen
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  2. Aysel Yuce
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  3. Zuhal Akcoren
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  4. Burcu Berberoglu-Ates
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  5. Yusuf Aydemir
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  6. Erdal Sag
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  7. Serdar Ceylaner
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Corresponding author

Correspondence to Hayriye Hizarcioglu-Gulsen .

Editor information

Editors and Affiliations

  1. Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria

    Johannes Zschocke

  2. WSU Division of Health Sciences Clinical Pharmacology Unit, Spokane, Washington, USA

    K. Michael Gibson

  3. Department of Biochemistry Genetics Unit, University of Oxford, Oxford, United Kingdom

    Garry Brown

  4. Tulane University Medical School, New Orleans, Louisiana, USA

    Eva Morava

  5. Heidelberg University Hospital Centre for Child & Adolescent Med, Heidelberg, Germany

    Verena Peters

Additional information

Communicated by: Jean-Marie Saudubray

Appendices

Take Home Message

Elevation of chitotriosidase activity is not only determined in lysosomal storage diseases but also in other macrophage activation-related conditions such as glycogen storage diseases.

Compliance with Ethics Guidelines

Conflict of Interest

Hayriye Hizarcioglu-Gulsen, Aysel Yuce, Zuhal Akcoren, Burcu Berberoglu-Ates, Yusuf Aydemir, Erdal Sag, and Serdar Ceylaner declare that they have no conflict of interest.

Informed Consent

An informed consent was obtained from the parents of the patient.

Animal Rights

This article does not contain any studies with animal subjects performed by the any of the authors.

Details of the Contributions of Individual Authors

Hayriye Hizarcioglu-Gulsen is the corresponding author. The draft of the manuscript was prepared and written by her and she is the guarantor for this report.

Aysel Yuce also participated in designation of the case report and revised it critically.

Zuhal Akcoren was responsible for histological assessment.

Burcu Berberoglu-Ates, Yusuf Aydemir, and Erdal Sag were responsible for clinical follow-up of the patient and they also participated in the drafting the manuscript.

Serdar Ceylaner performed the genetic analysis of the GBE1 gene.

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© 2014 SSIEM and Springer-Verlag Berlin Heidelberg

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Hizarcioglu-Gulsen, H. et al. (2014). A Rare Cause of Elevated Chitotriosidase Activity: Glycogen Storage Disease Type IV. In: Zschocke, J., Gibson, K., Brown, G., Morava, E., Peters, V. (eds) JIMD Reports, Volume 17. JIMD Reports, vol 17. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2014_335

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  • DOI: https://doi.org/10.1007/8904_2014_335

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  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-662-44577-8

  • Online ISBN: 978-3-662-44578-5

  • eBook Packages: MedicineMedicine (R0)

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