Biochemical phenotype of hypophosphatasia in asymptomatic individuals carrying ALPL variants
Authors' conclusion
These findings refine our understanding of the HPP spectrum, identifying a cohort of asymptomatic ALPL carriers with biochemical phenotype of HPP.
Study context
- Population
- Asymptomatic individuals with low alkaline phosphatase (ALP) (adjusted for age/sex), at least one ALPL variant and no overt or reported hypophosphatasia (HPP)-related symptoms; median age 29 yr (range 0–64), 23 female
- Participants
- 43 individuals
- Outcome
- Biochemical and genetic phenotype
Methodological detailsGlobal ALPL Gene Variant Database
- Global ALPL Gene Variant Database
Main finding
As reported in the abstract
- Serum ALP activity reduced
- all cases
- ALP levels less than 50% below the lower limit of normal
- 76%
- PLP or phosphoethanolamine (PEA) also elevated
- 19 of 43
- Distinct genotypes
- 30
- Heterozygous
- 79%
- Homozygous or compound heterozygous
- 21%
- Missense variants
- 77%
- Variants in regions without a specific domain
- 38%
- Variants with dominant-negative effect in vitro, yet no clinical manifestations
- 5
Observational data: associations, not effects.
Original publication
Biochemical phenotype of hypophosphatasia in asymptomatic individuals carrying ALPL variants. J Bone Miner Res. Published 11 September 2025. doi:10.
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