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Hypophosphatasia (HPP) is a rare genetic disorder arising from mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene that leads to low alkaline phosphatase (ALP) activity and impaired bone mineralization. This disorder typically presents with low ALP levels, elevated vitamin B6 and urinary phosphoethanolamine (PEP) levels, and can manifest in adults as recurrent fractures, bone and joint pain, short stature, and tooth loss.
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Barr et al. (2024) studied this question.
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