There’s Something in the Water: An Unusual Case of Hypophosphatasia
DOI:
https://doi.org/10.26209/psjm62829Keywords:
Hypophosphatasia, Mineral deficiencyAbstract
Learning Objectives
1. Explain the mechanism of TNSALP in the pathogenesis
of hypophosphatasia and the role of ALPL mutations in
the severity of disease presentation.
2. Describe the clinical manifestations and diagnostic
criteria of hypophosphatasia, as well as the rationale for
utilizing enzyme-replacement therapy in the treatment
of disease.
3. Explain the role of minerals in the enzymatic activity
of ALP and understand why a mineral deficiency
associated with drinking exclusively tap water could
contribute to symptom severity in patients with
hypophosphatasia.
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