Vitamin B6 challenge as a tool for detecting ALPL mutations and diagnosing hypophosphatasia
Authors' conclusion
A 2-day vitamin B6 supplementation test may be useful for identifying carriers of ALPL mutations among individuals with unexplained low serum ALP.
Study context
- Population
- Patients with low serum alkaline phosphatase (ALP), with or without ALPL mutations, and control subjects
- Comparison
- PLP after 2-day vitamin B6 challenge in ALPL mutation carriers vs non-carriers with low serum ALP
- Outcome
- Diagnostic utility of vitamin B6 supplementation (20 mg/day pyridoxine hydrochloride) for identifying ALPL variants: PLP >500 nmol/l
- Follow-up
- After 2-day supplementation
Performance
As reported in the abstract
Diagnostic performance of PLP >500 nmol/l for ALPL mutation carriers · after 2-day vitamin B6 supplementation
Sensitivity (all carriers had PLP >500 nmol/l after 2-day supplementation)
100%; CI 95-100
Specificity (only 1 non-carrier surpassed 500 nmol/l after 2-day supplementation)
96%; CI 85-100
Further findings
Baseline PLP in mutation carriers
- Carriers tended to have higher PLP; carriers with baseline levels within normal range
- up to 33%
Original publication
Vitamin B6 challenge as a tool for detecting ALPL mutations and diagnosing hypophosphatasia. Osteoporos Int. Published 28 June 2025. doi:10.
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