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Related Experiment Video

Updated: Jan 20, 2026

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Alkaline Phosphatase Replacement Therapy.

Maria Luisa Bianchi1, Silvia Vai2

  • 1Experimental Laboratory for Children's Bone Metabolism Research, Bone Metabolism Unit, Istituto Auxologico Italiano IRCCS, Milan, Italy. ml.bianchi@auxologico.it.

Advances in Experimental Medicine and Biology
|September 5, 2019
PubMed
Summary
This summary is machine-generated.

Hypophosphatasia (HPP) is a rare genetic disorder caused by defective tissue-non-specific alkaline phosphatase (TNSALP). This review covers HPP subtypes, genetics, and current enzyme replacement therapy (ERT) experiences.

Keywords:
Alkaline phosphataseAsfotase alfaBoneEnzyme replacement therapyFracturesHypomineralizationHypophosphatasiaTeeth

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Area of Science:

  • Biochemistry
  • Genetics
  • Rare Diseases

Background:

  • Hypophosphatasia (HPP) is a rare genetic disorder.
  • It stems from defective production of tissue-non-specific alkaline phosphatase (TNSALP).
  • HPP presents with diverse subtypes and severity, from mild to lethal.

Purpose of the Study:

  • To provide an overview of HPP.
  • To discuss HPP genetics, epidemiology, classification, and clinical presentations.
  • To review current enzyme replacement therapy (ERT) for HPP.

Main Methods:

  • Literature review of HPP.
  • Analysis of HPP genetics and epidemiology.
  • Evaluation of clinical presentations and ERT outcomes.

Main Results:

  • Six HPP subtypes exist: perinatal lethal, prenatal benign, infantile, childhood, adult, and odontohypophosphatasia.
  • Clinical manifestations and severity vary significantly across subtypes.
  • Enzyme replacement therapy (ERT) is an emerging treatment option.

Conclusions:

  • HPP is a complex genetic disorder with a wide clinical spectrum.
  • Understanding HPP subtypes and genetics is crucial for diagnosis and management.
  • Enzyme replacement therapy (ERT) shows promise for treating HPP.