Successful unrelated bone marrow transplantation in two siblings with alpha-mannosidosis

YESILIPEK A. M., Akcan M., Karasu G., Uygun V., Kupesiz A., Hazar V.

PEDIATRIC TRANSPLANTATION, vol.16, no.7, pp.779-782, 2012 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 16 Issue: 7
  • Publication Date: 2012
  • Doi Number: 10.1111/j.1399-3046.2012.01763.x
  • Journal Name: PEDIATRIC TRANSPLANTATION
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.779-782
  • Keywords: alpha-mannosidosis, allogeneic stem cell transplantation, LYSOSOMAL STORAGE DISORDERS
  • Akdeniz University Affiliated: Yes

Abstract

Yesilipek AM, Akcan M, Karasu G, Uygun V, Kupesiz A, Hazar V. Successful unrelated bone marrow transplantation in two siblings with alpha-mannosidosis. Abstract: Alpha-mannosidosis is a rare lysosomal storage disorder with an autosomal recessive inheritance. Deficient alpha-mannosidase activity leads to lysosomal accumulation of mannose-rich oligosaccharides. The disease characterized by mental retardation, skeletal changes, hearing impairment, and recurrent infections. Stem cell transplantation has been shown to be an effective treatment. It works by providing increased levels of a-mannosidase in the localized extracellular milieu to provide improvements in skeletal malformations, neurocognitive, and sensorineural function. In this case report, we describe a pair of siblings with a-mannosidosis who successfully underwent HSCT from matched unrelated donors. In both siblings, enzyme levels reached to normal limits and improvements in clinical symptoms were recognized early after HSCT. We conclude that HSCT should be considered as a therapeutic approach in patients with alpha-mannosidosis before disease-related complications have developed.