Maria Luisa Brandi, Aliya A Khan, Eric T Rush, Dalal S Ali, Hatim Al-Alwani, Khulod Almonaei, Farah Alsarraf, Severine Bacrot, Kathryn M Dahir, Karel Dandurand, Chad Deal, Serge Livio Ferrari, Francesca Giusti, Gordon Guyatt, Erin Hatcher, Steven W Ing, Muhammad Kassim Javaid, Sarah Khan, Roland Kocijan, E Michael Lewiecki, Agnes Linglart, Iman M'Hiri, Francesca Marini, Mark E Nunes, Cheryl Rockman-Greenberg, Lothar Seefried, Jill H Simmons, Susan R Starling, Leanne M Ward, Liang Yao, Romina Brignardello-Petersen, Christian Roux
Hypophosphatasia (HPP) is an inborn error of metabolism caused by reduced or absent activity of the tissue non-specific alkaline phosphatase (TNSALP) enzyme, resulting from pathogenic variants in the ALPL gene. Clinical presentation of HPP is highly variable, including lethal and severe forms in neonates and infants, a benign perinatal form, mild forms manifesting in adulthood, and odonto-HPP. Diagnosis of HPP remains a challenge in adults, as signs and symptoms may be mild and non-specific. Disease presentation varies widely; there are no universal signs or symptoms, and the disease often remains underdiagnosed or misdiagnosed, particularly by clinicians who are not familiar with this rare disorder...
November 20, 2023: Osteoporosis International