Diagnosis of hypophosphatasia involves a combination of clinical evaluation, biochemical tests, and genetic analysis. Key diagnostic steps include:
Clinical examination for symptoms such as bone deformities and premature tooth loss Low levels of serum alkaline phosphatase (ALP) activity Elevated levels of substrates like phosphoethanolamine (PEA), pyridoxal 5'-phosphate (PLP), and inorganic pyrophosphate (PPi) in blood and urine Radiographic imaging to assess bone abnormalities Genetic testing to identify mutations in the ALPL gene
