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A rare, moderate form of hypophosphatasia characterized by defective mineralization of bone and/or teeth, premature loss of teeth with intact roots, and reduced serum alkaline phosphatase (ALP) activity. Individuals can present with this form of hypophosphatasia in infancy, childhood, or adulthood. It can inherited via either autosomal dominant or autosomal recessive inheritance.
Biomarker and diagnostic research for moderate hypophosphatasia has been reported in the published literature.
No clinical trials have been registered for moderate hypophosphatasia.
7 publications have been identified in PubMed for moderate hypophosphatasia. Research spans Review / Meta-Analysis (43%), Case Report / Case Series (29%), and Diagnostic / Biomarker (14%).
Tabegna FGA (2025). [PMID: 40906226](https://pubmed.ncbi.nlm.nih.gov/40906226/). *Curr Osteoporos Rep*. [Review / Meta-Analysis]
Noda Y (2025). [PMID: 39925621](https://pubmed.ncbi.nlm.nih.gov/39925621/). *JBMR Plus*. [Diagnostic / Biomarker]
Sergi CM (2025). [PMID: 41465148](https://pubmed.ncbi.nlm.nih.gov/41465148/). *Genes (Basel)*. [Review / Meta-Analysis]
Prakash V (2025). [PMID: 40409424](https://pubmed.ncbi.nlm.nih.gov/40409424/). *Bone*. [Case Report / Case Series]
Rojas Martínez JA (2024). [PMID: 39506814](https://pubmed.ncbi.nlm.nih.gov/39506814/). *Orphanet J Rare Dis*. [Epidemiology / Natural History]
Giuca MR (2024). [PMID: 39212455](https://pubmed.ncbi.nlm.nih.gov/39212455/). *Eur J Paediatr Dent*. [Review / Meta-Analysis]
Data assembled from 2 of 12 sources · Last updated Nov 4, 2026, 2:11 PM UTC
Yorgan TA (2024). [PMID: 39331754](https://pubmed.ncbi.nlm.nih.gov/39331754/). *J Bone Miner Res*. [Case Report / Case Series]
AI-curated news mentioning moderate hypophosphatasia
Updated Oct 13, 2026
The investigational enzyme replacement therapy efzimfotase alfa, developed by AstraZeneca, failed to meet its primary endpoint in a phase III trial for hypophosphatasia, showing no improvement in the 6-Minute Walk Test. Additionally, a study suggests a link between polyendocrine metabolic ovarian syndrome and increased rates of dementia and Alzheimer's disease in women.
A systematic review highlights the prevalence of hypophosphatasia across general and specific patient populations. This research provides valuable insights into the disease's occurrence, which may inform future studies and treatment approaches.
A study published in PubMed highlights the diagnostic yield of laboratory-based screening for hypophosphatasia in Chinese children presenting with low alkaline phosphatase levels. This research could enhance early detection and management of this rare bone disorder.
A case report details an adult with hypophosphatasia carrying a single heterozygous mutation in the ALPL gene. This finding contributes to the understanding of genetic variations associated with the disease.