ESPE Abstracts

ESPE Abstracts

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hrp0098p1-17 | Bone, Growth Plate and Mineral Metabolism 1 | ESPE2024

New clinical phenotypes associated with ALPL mutations

R Farman Mariam , Rehder Catherine , Malli Theodora , Rockman-Greenberg Cheryl , Dahir Kathryn , Ángel Martos-Moreno Gabriel , Linglart Agnès , Ozono Keiichi , Seefried Lothar , del Angel Guillermo , Högler Florian , Montero-Lopez Rodrigo , Barbazza Francesca , Burner Nading Erica , Huggins Erin , T Rush Eric , K Javaid Muhammad , Muche Burkhard , T Tauer Josephine , S Kishnani Priya , Webersinke Gerald , Högler Wolfgang

Objectives: HPP is a multisystem disorder caused by ALPL variants that lead to ALP deficiency and excessive inorganic pyrophosphate, which inhibits mineralization of bones and teeth. A range of symptoms is associated with HPP inherited in an autosomal dominant manner that can manifest at any stage of life, making diagnosis difficult. The traditional method of classifying HPP into different types based on the onset of symptoms (prenatal benign, perinat...
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ESPE Abstracts

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