Hypophosphatasia (HPP) is a rare inherited disease caused by mutations in the ALPL gene. The ALPL gene is responsible for the production of the enzyme called tissue nonspecific alkaline phosphatase, which is essential for the proper mineralization of bones and teeth. Childhood HPP can be inherited in an autosomal dominant or autosomal recessive manner, resulting in a wide range of clinical variability. Although patients with childhood HPP typically lack life-threatening symptoms, they may still have significant disease, with chronic manifestations. Because of the systemic presentation, the management requires a multidisciplinary approach to improve morbidity for patients with juvenile HPP.
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Cite this: Eric T. Rush. Fast Five Quiz: Juvenile Hypophosphatasia Management - Medscape - Jul 22, 2022.