Prevalence of low alkaline phosphatase activity in laboratory assessment: Is hypophosphatasia an underdiagnosed disease?

• DOI: 10.1186/s13023-021-02084-w
• Publication Date: 2021-10-28T18:04:01Z
• Authors: Tobias Schmidt; Constantin Schmidt; Michael Amling; Jan Kramer; Florian Barvencik
• Keywords: Hypophosphatasia; Human genetics

Tissue-nonspecific alkaline phosphatase (TNSALP) encoded by the ALPL gene is of particular importance for bone mineralization. Mutation in can lead to persistent low ALP activity resulting rare disease Hypophosphatasia (HPP) that characterized disturbed and dental While severe forms are extremely with an estimated prevalence 1/100.000, recent studies suggest moderate form caused heterozygous mutations much more frequent 1/508. The purpose this study was estimate AP levels population based on laboratory measurements.In study, elevated pyridoxal-5-phosphate (PLP) analyzed 6.918.126 measurements from 2011 2016 at a single northern Germany. Only values subjects older than 18 years age were included. first measurement included, all repeated excluded.In total, 8.46% total showed value < 30 U/L. 0.59% below U/L had additional PLP measurement. Here, 6.09% levels. This 0.52% (1:194) show signs HPP.These data support genetic estimation HPP may be significantly higher expected. Based these data, we recommend automatically case notification ordering physician should included differential diagnosis further exploration recommended.