BookmarkKey takeaways: Hypophosphatasia is caused by mutations in the ALPL gene, which reduce the activity of tissue‑nonspecific alkaline phosphatase (TNAP), an enzyme that’s important for bone, tooth, liver, and kidney health. Low ALP allows pyrophosphate and active vitamin B6 (P5P) to build up, interfering with normal bone mineralization. Single ALPL ...
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