This article provides an overview of the current knowledge on hypophosphatasia—a rare genetic disease of very variable presentation and severity—with a special focus on adolescents and adults. It summarizes the available information on the many known mutations of tissue-nonspecific alkaline phosphatase (TNSALP), the epidemiology and clinical presentation of the disease in adolescents and adults, and the essential diagnostic clues. The last section reviews the therapeutic approaches, including recent reports on enzyme replacement therapy (EnzRT).

Additional Metadata
Keywords Alkaline phosphatase, Bone, Fractures, Hypomineralization, Hypophosphatasia, Teeth
Persistent URL dx.doi.org/10.1007/s00198-020-05345-9, hdl.handle.net/1765/125634
Journal Osteoporosis International: with other metabolic bone diseases
Citation
Bianchi, M.L, Bishop, N, Guañabens, N. (N.), Hofmann, C. (C.), Jakob, F. (F.), Roux, C, & Zillikens, M.C. (2020). Hypophosphatasia in adolescents and adults: overview of diagnosis and treatment. Osteoporosis International: with other metabolic bone diseases. doi:10.1007/s00198-020-05345-9