Understanding Lab Tests for Hypophosphatasia
Written by Private MD Labs Medical Writing Team • Last Updated: September 8, 2025
Hypophosphatasia is a rare genetic disorder that affects bone and tooth development due to deficient activity of alkaline phosphatase, an enzyme crucial for proper mineralization. This condition can range from mild dental problems to severe bone deformities and requires specific blood testing for accurate diagnosis.
Recommended Test
Alkaline Phosphatase, Serum
This test measures the level of alkaline phosphatase enzyme in the blood. In hypophosphatasia, this enzyme is characteristically low due to genetic mutations affecting its production or function. Persistently low alkaline phosphatase levels, especially when combined with bone and dental symptoms, are the hallmark of this rare genetic disorder and essential for diagnosis.
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Diagnosing Hypophosphatasia
Unlike many conditions where elevated enzyme levels indicate disease, hypophosphatasia is characterized by abnormally low alkaline phosphatase activity. This deficiency leads to improper bone and tooth formation, making alkaline phosphatase testing a primary diagnostic tool for this genetic disorder.
Understanding the Results
Normal alkaline phosphatase levels vary by age, with higher levels typically seen in growing children and adolescents. In hypophosphatasia, levels are consistently below the normal range for age. The severity of symptoms often correlates with how low the enzyme levels are, with the most severe forms showing the lowest alkaline phosphatase activity.
Important Considerations
The information here is for educational purposes only and is not a substitute for professional medical advice. Always consult with a healthcare provider for diagnosis and treatment. Additional genetic testing may be recommended to confirm the diagnosis and identify specific mutations.
