Diagnostic Yield of Laboratory-Based Screening for Hypophosphatasia Among Chinese Children With Low Alkaline Phosphatase
Authors' conclusion
A routine laboratory-based low-ALP screening algorithm can effectively identify previously unrecognized HPP in a pediatric population. Our findings demonstrate a high prevalence of mild HPP in Chinese children, highlight neurobehavioral manifestations
Study context
- Population
- Children with persistently low serum alkaline phosphatase (ALP) (<2.5th percentile for age and sex) identified among 178,778 pediatric subjects screened, Children's Hospital of Soochow University, September 2023–August 2025178,778 screened
- Participants
- 339 children
- Outcome
- Diagnostic yield of low-ALP screening
Methodological detailslaboratory-based screening, single-centre, tertiary pediatric setting, In vitro tissue-nonspecific ALP (TNSALP) functional assays to adjudicate variants of uncertain significance (VUS), ALPL next-generation sequencing and serum PLP by UPLC-MS/MS in subjects with persistently low ALP
- Laboratory-based screening
- Single-centre
- Tertiary pediatric setting
- In vitro TNSALP functional assays to adjudicate VUS
- ALPL next-generation sequencing and serum PLP by UPLC-MS/MS in subjects with persistently low ALP
Main finding
As reported in the abstract
- Clinically relevant ALPL variants identified
- 73
- Individuals carrying clinically relevant ALPL variants
- 114
- Pathogenic variants
- 16
- Likely pathogenic variants
- 30
- VUS reclassified as likely pathogenic by functional assays (significantly reduced TNSALP activity)
- 3
- Confirmed hypophosphatasia (HPP)
- 32
- Suspected HPP
- 25
- Asymptomatic carriers
- 57
Observational data: associations, not effects.
Further findings
Clinical phenotype
- Predominant features were dental abnormalities and impaired linear growth; classic severe complications were uncommon
- Neurobehavioral manifestations observed, incl. attention-deficit/hyperactivity disorder and tic disorders
Original publication
Diagnostic Yield of Laboratory-Based Screening for Hypophosphatasia Among Chinese Children With Low Alkaline Phosphatase. J Clin Endocrinol Metab. Published 30 September 2026. doi:10.
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