The role of hematopoietic cell transplant in the glycoprotein diseases

Brianna M. Naumchik, Ashish Gupta, Heather Flanagan-Steet, Richard A. Steet, Sara S. Cathey, Paul J. Orchard, Troy C. Lund

Research output: Contribution to journalReview articlepeer-review

15 Scopus citations


The glycoprotein disorders are a group of lysosomal storage diseases (α-mannosidosis, aspartylglucosaminuria, β-mannosidosis, fucosidosis, galactosialidosis, sialidosis, mucolipidosis II, mucolipidosis III, and Schindler Disease) characterized by specific lysosomal enzyme defects and resultant buildup of undegraded glycoprotein substrates. This buildup causes a multitude of abnormalities in patients including skeletal dysplasia, inflammation, ocular abnormalities, liver and spleen enlargement, myoclonus, ataxia, psychomotor delay, and mild to severe neurodegeneration. Pharmacological treatment options exist through enzyme replacement therapy (ERT) for a few, but therapies for this group of disorders is largely lacking. Hematopoietic cell transplant (HCT) has been explored as a potential therapeutic option for many of these disorders, as HCT introduces functional enzyme-producing cells into the bone marrow and blood along with the engraftment of healthy donor cells in the central nervous system (presumably as brain macrophages or a type of microglial cell). The outcome of HCT varies widely by disease type. We report our institutional experience with HCT as well as a review of the literature to better understand HCT and outcomes for the glycoprotein disorders.

Original languageEnglish (US)
Article number1411
Issue number6
StatePublished - Jun 2020

Bibliographical note

Publisher Copyright:
© 2020 by the authors. Licensee MDPI, Basel, Switzerland.


  • Aspartylglucosaminuria
  • Enzyme replacement therapy
  • Fucosidosis
  • Galactosialidosis
  • Glycoprotein disorders
  • Hematopoietic cell transplant
  • Lysosomal storage disease
  • Mucolipidosis II
  • Mucolipidosis III
  • Schindler Disease
  • Sialidosis
  • α-mannosidosis
  • β-mannosidosis


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