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OasisLMS
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Catalog
Rare Bone Diseases
Hypophosphatasia
Hypophosphatasia
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Video Transcription
Video Summary
In this video, the speaker discusses hypophosphatasia, a condition characterized by low serum alkaline phosphatase. It is caused by loss-of-function mutations in the TN-SALP gene, which encodes the tissue-nonspecific isoenzyme of alkaline phosphatase. The speaker explains the inheritance pattern, prevalence, and symptoms of different types of hypophosphatasia. They also discuss the role of TN-SALP in bone mineralization and pyridoxal 5-phosphate metabolism. Diagnosis is based on laboratory tests and genetic testing. Treatment options, including the use of asfotase alfa, are discussed, highlighting its effectiveness in improving survival, muscle strength, and bone mineralization.
Keywords
hypophosphatasia
alkaline phosphatase
TN-SALP gene
bone mineralization
asfotase alfa
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