Update on the management of hypophosphatasia
Hypophosphatasia is a rare inherited disease caused by a loss of function mutations in the gene that codes for the tissue-nonspecific alkaline phosphatase enzyme. It is autosomally inherited and at least 388 different genetic defects have been identified. The clinical presentation is variable from a...
| Main Authors: | , |
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| Format: | Article |
| Language: | English |
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SAGE Publishing
2019-07-01
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| Series: | Therapeutic Advances in Musculoskeletal Disease |
| Online Access: | https://doi.org/10.1177/1759720X19863997 |
| Summary: | Hypophosphatasia is a rare inherited disease caused by a loss of function mutations in the gene that codes for the tissue-nonspecific alkaline phosphatase enzyme. It is autosomally inherited and at least 388 different genetic defects have been identified. The clinical presentation is variable from a severe perinatal form, that is fatal if untreated, to adult-onset disease. This review covers the pathophysiology, diagnosis and current management option including the recently licensed enzyme replacement therapy asfotase alfa. |
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| ISSN: | 1759-7218 |