Enzyme replacement therapy for infantile hypophosphatasia attempted by intravenous infusions of alkaline phosphatase-rich Paget plasma: results in three additional patients

J Pediatr. 1984 Dec;105(6):926-33. doi: 10.1016/s0022-3476(84)80079-7.

Abstract

After biochemical and radiographic studies, enzyme replacement therapy in three patients with the infantile form of hypophosphatasia was attempted by weekly intravenous infusions of bone alkaline phosphatase-rich (BAP) plasma from patients with Paget bone disease. Subsequently, circulating BAP activity was substantially increased in each patient, and in one was maintained in the normal range for nearly 2 months. Despite partial or complete correction of the deficiency of circulating BAP activity, we observed no radiographic evidence for arrest of progressive osteopenia or improvement in rachitic defects in any of the patients. Failure of infants with hypophosphatasia to show significant healing of rickets on correction of circulating BAP activity supports the hypothesis that this isoenzyme functions in situ during normal skeletal mineralization.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Alkaline Phosphatase / blood
  • Alkaline Phosphatase / therapeutic use*
  • Humans
  • Hypophosphatasia / diagnostic imaging
  • Hypophosphatasia / pathology
  • Hypophosphatasia / therapy*
  • Ilium / pathology
  • Infant
  • Infant, Newborn
  • Infusions, Parenteral
  • Male
  • Osteitis Deformans / enzymology*
  • Osteogenesis
  • Plasmapheresis*
  • Radiography

Substances

  • Alkaline Phosphatase