Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
2058805 | Molecular Genetics and Metabolism Reports | 2015 | 4 Pages |
Abstract
The most severe form of Mucopolysaccharosidosis type I (MPS-I), Hurler syndrome, presents with progressive respiratory, cardiac and musculoskeletal symptoms and cognitive deterioration.Treatment includes enzyme replacement therapy (ERT) and/or hematopoietic stem cell transplantation (HSCT).We describe the case of an 8-year old boy with MPS-I, homozygous for W402X, treated at 10 months of age with HSCT and after failure of the transplant, with ERT during 2 years showing good results, including a positive neuropsychological development.
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Authors
Leonor Arranz, Luis Aldamiz-Echevarria,