Infantile Hypophosphatasia

  • A family of children diagnosed with the rarest of diseases — Infantile Hypophosphatasia
    struggling to get these genetic disorders included under the Centre’s National Policy for
    Rare Diseases (NPRD).
  • Infantile Hypophosphatasia is a rare genetic disease in which the patient’s bones and
    teeth demineralise, making her fragile and prone to fractures.
  • It may have no noticeable abnormalities at birth, but complications become apparent
    within the first six months of life.
  • The initial problem may be the baby’s failure to gain weight and grow as expected,
    referred to as “failure to thrive.”
  • Sometimes the skull bones fuse, called craniosynostosis, which can lead to a deformed
    head (brachycephaly).
  • Affected infants have softened, weakened, and deformed bones consistent with rickets.
  • Rickets is a general term for complications due to defective skeletal mineralization during
    growth with softening of bone and characteristic bowing deformities.
  • It is caused by mutations in the ALPL gene.
  • This is the only gene that causes HPP. Genes provide instructions for making proteins
    that have an important function in the body.
  • When a mutation occurs, the protein may be faulty, inefficient, or absent, as in HPP.