Alkaline Phosphatase Replacement Therapy.

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.