The Role of Hematopoietic Cell Transplant in the Glycoprotein Diseases
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 build...
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MDPI AG
2020-06-01
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| Online Access: | https://www.mdpi.com/2073-4409/9/6/1411 |
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| author | Brianna M. Naumchik Ashish Gupta Heather Flanagan-Steet Richard A. Steet Sara S. Cathey Paul J. Orchard Troy C. Lund |
| author_facet | Brianna M. Naumchik Ashish Gupta Heather Flanagan-Steet Richard A. Steet Sara S. Cathey Paul J. Orchard Troy C. Lund |
| author_sort | Brianna M. Naumchik |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-10T19:20:56Z |
| format | Article |
| id | doaj.art-7d1ba3c4a8904b5ea45a687286544437 |
| institution | Directory Open Access Journal |
| issn | 2073-4409 |
| language | English |
| last_indexed | 2024-03-10T19:20:56Z |
| publishDate | 2020-06-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Cells |
| spelling | doaj.art-7d1ba3c4a8904b5ea45a6872865444372023-11-20T02:59:53ZengMDPI AGCells2073-44092020-06-0196141110.3390/cells9061411The Role of Hematopoietic Cell Transplant in the Glycoprotein DiseasesBrianna M. Naumchik0Ashish Gupta1Heather Flanagan-Steet2Richard A. Steet3Sara S. Cathey4Paul J. Orchard5Troy C. Lund6Division of Pediatric Blood and Marrow Transplant, University of Minnesota, Minneapolis, MN 55455, USADivision of Pediatric Blood and Marrow Transplant, University of Minnesota, Minneapolis, MN 55455, USAGreenwood Genetic Center, Greenwood, SC 29646, USAGreenwood Genetic Center, Greenwood, SC 29646, USAGreenwood Genetic Center, Greenwood, SC 29646, USADivision of Pediatric Blood and Marrow Transplant, University of Minnesota, Minneapolis, MN 55455, USADivision of Pediatric Blood and Marrow Transplant, University of Minnesota, Minneapolis, MN 55455, USAThe 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.https://www.mdpi.com/2073-4409/9/6/1411glycoprotein disorderslysosomal storage diseasehematopoietic cell transplantenzyme replacement therapyα-mannosidosisaspartylglucosaminuria |
| spellingShingle | Brianna M. Naumchik Ashish Gupta Heather Flanagan-Steet Richard A. Steet Sara S. Cathey Paul J. Orchard Troy C. Lund The Role of Hematopoietic Cell Transplant in the Glycoprotein Diseases Cells glycoprotein disorders lysosomal storage disease hematopoietic cell transplant enzyme replacement therapy α-mannosidosis aspartylglucosaminuria |
| title | The Role of Hematopoietic Cell Transplant in the Glycoprotein Diseases |
| title_full | The Role of Hematopoietic Cell Transplant in the Glycoprotein Diseases |
| title_fullStr | The Role of Hematopoietic Cell Transplant in the Glycoprotein Diseases |
| title_full_unstemmed | The Role of Hematopoietic Cell Transplant in the Glycoprotein Diseases |
| title_short | The Role of Hematopoietic Cell Transplant in the Glycoprotein Diseases |
| title_sort | role of hematopoietic cell transplant in the glycoprotein diseases |
| topic | glycoprotein disorders lysosomal storage disease hematopoietic cell transplant enzyme replacement therapy α-mannosidosis aspartylglucosaminuria |
| url | https://www.mdpi.com/2073-4409/9/6/1411 |
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