Mucopolysaccharidosis type 3B in an adult with pancytopenia: A rare case report Pansitopenisi Olan Erişkin Mukopolisakkaridoz Tip 3B Olgusu: Nadir Bir Olgu Sunumu

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MERDİN A., Merdin F. A., Karaca M., Güzelay N.

Haseki Tip Bulteni, vol.52, no.3, pp.232-234, 2014 (Scopus) identifier

  • Publication Type: Article / Article
  • Volume: 52 Issue: 3
  • Publication Date: 2014
  • Doi Number: 10.4274/haseki.1614
  • Journal Name: Haseki Tip Bulteni
  • Journal Indexes: Scopus, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.232-234
  • Keywords: Erişkin yaş, Mukopolisakkaridoz tip 3B, Pansitopeni, San flippo sendromu tip 3B
  • Akdeniz University Affiliated: Yes

Abstract

© 2014, Haseki Training and Research Hospital. All rights reserved.Mucopolysaccharidoses are rare hereditary lysosomal storage diseases developing due to dysfunction or deficiencies in enzymes that metabolize long-chain carbohydrates and glycosaminoglycans. Patients are normal at birth, but with accumulation of damaged products in the tissues, clinical features begin to appear in early childhood and, generally lose their lives before reaching adulthood. Sanfilippo syndrome B is a mucopolysaccharidosis caused by the deficiency of the lysosomal enzyme alpha-Nacetylglucosaminidase. Herein, we report a very rare case of Sanfilippo syndrome B accompanied by pancytopenia in an 18-yearold female patient who has survived into adulthood.