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Article

Impact of pediatric hypophosphatasia on behavioral health and quality of life

12 Feb 2021

Abstract excerpt

BACKGROUND: Hypophosphatasia (HPP) is a rare genetic disorder caused by loss-of-function mutations in the ALPL gene encoding tissue nonspecific alkaline phosphatase. It is characterized by defective bone mineralization associated with low alkaline phosphatase activity. Clinical features of pediatric HPP are highly variable, and can include premature loss of teeth, musculoskeletal problems, and impaired mobility....

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PMID: 33579333
DOI: 10.1186/s13023-021-01722-7

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