Current international perspectives on hematopoietic stem cell transplantation for inherited metabolic disorders.
Inherited metabolic disorders (IMD) or inborn errors of metabolism are a diverse group of diseases arising from genetic defects in lysosomal enzymes or peroxisomal function. These diseases are characterized by devastating systemic processes affecting neurologic and cognitive function, growth and development, and cardiopulmonary status. Onset in infancy or early childhood is typically accompanied by rapid deterioration. Early death is a common outcome. Timely diagnosis and immediate referral to an IMD specialist are essential steps in management of these disorders. Treatment recommendations are based on the disorder, its phenotype including age at onset and rate of progression, severity of clinical signs and symptoms, family values and expectations, and the risks and benefits associated with available therapies such as allogeneic hematopoietic stem cell transplantation (HSCT). This review discusses indications for HSCT and outcomes of HSCT for selected IMD. An international perspective on progress, limitations, and future directions in the field is provided.
Duke Scholars
Altmetric Attention Stats
Dimensions Citation Stats
Published In
DOI
EISSN
Publication Date
Volume
Issue
Start / End Page
Location
Related Subject Headings
- Pediatrics
- Metabolism, Inborn Errors
- International Cooperation
- Humans
- Hematopoietic Stem Cell Transplantation
- Genetic Predisposition to Disease
- Child
- Biomedical Research
- 3213 Paediatrics
- 1114 Paediatrics and Reproductive Medicine
Citation
Published In
DOI
EISSN
Publication Date
Volume
Issue
Start / End Page
Location
Related Subject Headings
- Pediatrics
- Metabolism, Inborn Errors
- International Cooperation
- Humans
- Hematopoietic Stem Cell Transplantation
- Genetic Predisposition to Disease
- Child
- Biomedical Research
- 3213 Paediatrics
- 1114 Paediatrics and Reproductive Medicine