Genetic, biochemical, and substrate abnormalities supporting the diagnosis of hypophosphatasia.
Genetic
Biochemical
Substrates
ALPL gene testing:
Positive result: confirms diagnosis
Negative result: does not exclude the diagnosis; consider evaluation for alternative genetic conditions with overlapping phenotypes (e.g., variants in RUNX2 or ENPP1)
ALP: persistently low for age and sex of the patient; secondary causes should be excluded
JB has received consultancy and speaker fees from Alexion Pharmaceuticals. RK has received consultancy and speaker fees from Alexion. There are no restrictions on the writing or publication of this article. The other authors declare no other conflicts of interest.
Ethical approval
Not applicable.
Consent to participate
Not applicable.
Consent to publication
Not applicable.
Availability of data and materials
The primary data for this systematic review were sourced online from databases listed in the methods. Referenced articles are accessible on PubMed/MEDLINE, Scopus, and Google Scholar. Additional supporting data are available from the corresponding author upon request.
Open Exploration maintains a neutral stance on jurisdictional claims in published institutional affiliations and maps. All opinions expressed in this article are the personal views of the author(s) and do not represent the stance of the editorial team or the publisher.
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