Searchable abstracts of presentations at key conferences on calcified tissues

ba0007p53 | (1) | ICCBH2019

Successful treatment with enzyme replacement therapy in a girl with severe infantile Hypophosphatasia

Heldt Katrin , L'Allemand Dagmar

Background: Infantile Hypophosphatasia (HPP) is an inborn error of metabolism characterized by low serum alkaline phosphatase activity caused by loss-of-function mutations within the ALPL-gene encoding the tissue nonspecific isoenzyme of ALP (TNSALP). TNSALP controls skeletal and dental mineralization by hydrolyzing inorganic pyrophosphate, a potent inhibitor of bone mineralization. Patients develop substantial skeletal disease, failure to thrive, and sometimes vitamin B6&#150...