ReviewTherapeutics and clinical risk management2016
Pathophysiology of hypophosphatasia and the potential role of asfotase alfa.
Review in Therapeutics and clinical risk management, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed, 39 citations in OpenAlex.
- Iatrogenic Pan-Craniosynostosis Due to Alkaline Phosphatase Enzyme Replacement Therapy Using Asfotase Alfa for Hypophosphatasia.Journal of plastic and reconstructive surgery · 2026Article
- Neonatal hypophosphatasia: a case report of a rare genetic disorder.BMC pediatrics · 2025Article
- Differential diagnosis of heritable and acquired osteomalacia in children: biochemical and biomaterial signatures.Calcified tissue international · 2025Review
- TGF-β Enhances Phosphate-Driven Calcification of Human OA Articular Chondrocytes.Calcified tissue international · 2025Article
- Review
- A Case of Hypophosphatasia Started Enzyme Replacement Therapy Since Babyhood Stage.Children (Basel, Switzerland) · 2025Article
- Raman Spectroscopic Analysis of Molecular Structure and Mechanical Properties of Hypophosphatasia Primary Tooth.Molecules (Basel, Switzerland) · 2024Article
- Screening for Hypophosphatasia in Adult Patients at a Maximum Care Provider-Retrospective Analyses over Fifteen Years.Journal of clinical medicine · 2024Article
- Article
- Hypoalkaline Phosphatemia Dental Type: A Case Report.Clinical medicine insights. Pediatrics · 2024Article
- Effect of Asfotase Alfa in the Treatment of Hypophosphatasia- A Systematic Review.Journal of pharmacy & bioallied sciences · 2023Article
- Dental manifestation and management of hypophosphatasia.The Japanese dental science review · 2022Review
- Characterization of Genetic Variants of Uncertain Significance for theFrontiers in endocrinology · 2022Article
- Hypophosphatasia: A Unique Disorder of Bone Mineralization.International journal of molecular sciences · 2021Review
- Inborn errors in the vitamin B6 salvage enzymes associated with neonatal epileptic encephalopathy and other pathologies.Biochimie · 2021Review
- Adult hypophosphatasia with a novelBone reports · 2020Article
- A Case of the Perinatal Form Hypophosphatasia Caused by a Novel Large Duplication of theJournal of clinical research in pediatric endocrinology · 2019Article
- Update on the management of hypophosphatasia.Therapeutic advances in musculoskeletal disease · 2019Review
- Alkaline Phosphatase Replacement Therapy.Advances in experimental medicine and biology · 2019Review
- Review
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Authors and funding
1 author at 1 institution in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hypophosphatasia (HPP) is an inherited systemic bone disease that is characterized by bone hypomineralization. HPP is classified into six forms according to the age of onset and severity as perinatal (lethal), perinatal benign, infantile, childhood, adult, and odontohypophosphatasia. The causative gene of the disease is the ALPL gene that encodes tissue-nonspecific alkaline phosphatase (TNAP). TNAP is expressed ubiquitously, and its physiological role is apparent in bone mineralization. A defect in bone mineralization can manifest in several ways, including rickets or osteomalacia in HPP patients. Patients with severe forms suffer from respiratory failure because of hypoplastic chest, which is the main cause of death. They sometimes present with seizures due to a defect in vitamin B6 metabolism resulting from the lack of alkaline phosphatase activity in neuronal cells, which is also lethal. Patients with a mild form of the disease exhibit rickets or osteomalacia and a functional defect of exercise. Odontohypophosphatasia shows only dental manifestations. To date, 302 mutations in the ALPL gene have been reported, mainly single-nucleotide substitutions, and the relationships between phenotype and genotype have been partially elucidated. An established treatment for HPP was not available until the recent development of enzyme replacement therapy. The first successful enzyme replacement therapy in model mice using a modified human TNAP protein (asfotase alfa) was reported in 2008, and subsequently success in patients with severe form of the disease was reported in 2012. In 2015, asfotase alfa was approved in Japan in July, followed by in the EU and Canada in August, and then by the US Food and Drug Administration in the USA in October. It is expected that therapy with asfotase alfa will drastically change treatments and prognosis of HPP.
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