Alkaline Phosphatase Replacement Therapy

  • Maria Luisa BianchiEmail author
  • Silvia Vai
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 1148)


Hypophosphatasia (HPP) is a rare genetic disease, characterized by the defective production of tissue-non-specific alkaline phosphatase (TNSALP). Six subtypes of the disease – affecting neonates (beginning in utero), infants, children, or adults – are recognized: perinatal lethal, prenatal benign, infantile, childhood, adult, and odontohypophosphatasia. The clinical presentation of these subtypes is very different and the severity ranges from mild to lethal. This chapter, after an overview of the genetics, epidemiology, classification, and clinical presentation of the different forms of HPP, will review the current experience with enzyme replacement therapy (ERT).


Asfotase alfa Alkaline phosphatase Bone Enzyme replacement therapy Fractures Hypophosphatasia Hypomineralization Teeth 



Alkaline phosphatase


Bone mineral density


Bone-specific alkaline phosphatase


Continuous positive airway pressure


Dual-energy X-ray absorptiometry


Enzyme replacement therapy


Gamma-aminobutyric acid




Nucleoside pyrophosphohydrolase-1


Non steroidal anti-inflammatory drugs




Phosphatase orphan 1


Inorganic phosphate






Inorganic pyrophosphate


Parathyroid hormone


Radiographic global impression of change


Tissue-non-specific alkaline phosphatase


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© Springer Nature Singapore Pte Ltd. 2019

Authors and Affiliations

  1. 1.Experimental Laboratory for Children’s Bone Metabolism Research, Bone Metabolism UnitIstituto Auxologico Italiano IRCCSMilanItaly

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