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

Hizarcioglu-Gulsen H., YÜCE A., AKÇÖREN Z., Berberoglu-Ates B., Aydemir Y., SAĞ E., ...Daha Fazla

JIMD REPORTS, VOL 17, cilt.17, ss.63-66, 2014 (SCI-Expanded) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 17
  • Basım Tarihi: 2014
  • Doi Numarası: 10.1007/8904_2014_335
  • Dergi Adı: JIMD REPORTS, VOL 17
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, EMBASE, Directory of Open Access Journals
  • Sayfa Sayıları: ss.63-66
  • Eskişehir Osmangazi Üniversitesi Adresli: Hayır

Özet

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.