The enzyme ALP plays a key role in skeletal mineralisation by dephosphorylating inorganic pyrophosphate and generating inorganic phosphate, which then binds to calcium to form hydroxyapatite, the key mineral component of bone (Orimo 2010). Patients with HPP have reduced ALP activity due to mutations in the ALPL gene, leading to defective skeletal mineralisation and disturbed calcium/phosphate homeostasis, which results in the multisystemic manifestations of the disease (Linglart and Biosse-Duplan 2016; Orimo 2010; Rockman-Greenberg 2013).
The presence of low ALP activity alongside clinical signs and symptoms of HPP is sufficient for the diagnosis of HPP, making low ALP levels a key diagnostic marker (Bishop et al., 2016; Rockman-Greenberg 2013; Whyte 2013).
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