Hypophosphatasia

Diagnosis is based on clinical symptoms and the following tests:

• Low serum alkaline phosphatase (ALP) levels
• Elevated urinary phosphoethanolamine (PEA) and serum pyridoxal-5’-phosphate (PLP)
• Genetic testing to identify pathogenic variants in the ALPL gene
• Radiographic imaging to detect skeletal abnormalities consistent with impaired mineralization

Early diagnosis in infants and children is particularly important for initiating timely treatment and improving outcomes.

In the past, treatment was supportive and focused on symptom management. However, enzyme replacement therapy (ERT) is now available. Asfotase alfa is a recombinant form of TNSALP that replaces the deficient enzyme, improving bone mineralization. It is especially effective in infants and children. Since early initiation of treatment significantly influences long-term outcomes, timely diagnosis and prompt therapy are crucial. A multidisciplinary approach is key to improving quality of life for patients with hypophosphatasia.