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Alkaline Phosphatase Replacement Therapy

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Therapeutic Enzymes: Function and Clinical Implications

Part of the book series: Advances in Experimental Medicine and Biology ((AEMB,volume 1148))

Abstract

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).

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Abbreviations

ALP:

Alkaline phosphatase

BMD:

Bone mineral density

BSALP:

Bone-specific alkaline phosphatase

CPAP:

Continuous positive airway pressure

DXA:

Dual-energy X-ray absorptiometry

ERT:

Enzyme replacement therapy

GABA:

Gamma-aminobutyric acid

HPP:

Hypophosphatasia

NPP1:

Nucleoside pyrophosphohydrolase-1

NSAIDs:

Non steroidal anti-inflammatory drugs

PEA:

Phosphoethanolamine

PHOSPHO1:

Phosphatase orphan 1

Pi:

Inorganic phosphate

PL:

Pyridoxal

PLP:

Pyridoxal-5′-phosphate

PPi:

Inorganic pyrophosphate

PTH:

Parathyroid hormone

RGI-C:

Radiographic global impression of change

TNSALP:

Tissue-non-specific alkaline phosphatase

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Authors and Affiliations

  1. Experimental Laboratory for Children’s Bone Metabolism Research, Bone Metabolism Unit, Istituto Auxologico Italiano IRCCS, Milan, Italy

    Maria Luisa Bianchi & Silvia Vai

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  1. Maria Luisa Bianchi
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  2. Silvia Vai
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Correspondence to Maria Luisa Bianchi .

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  1. Department of Biotechnology, Agricultural University of Athens, Athens, Greece

    Nikolaos Labrou

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Bianchi, M.L., Vai, S. (2019). Alkaline Phosphatase Replacement Therapy. In: Labrou, N. (eds) Therapeutic Enzymes: Function and Clinical Implications. Advances in Experimental Medicine and Biology, vol 1148. Springer, Singapore. https://doi.org/10.1007/978-981-13-7709-9_10

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