hrp0097p2-54 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Over four generations of adult-form HPP diagnosed from an asymptomatic child with low ALP levels

Ohtaka Kohnosuke , Masunaga Youhei , Tanikawa Wataru , Endoh Akira

Background: Hypophosphatasia (HPP) is an inherited bone disorder caused by ALPL gene mutations. It is classified into 6 clinical types (perinatal lethal form, prenatal benign form, infantile form, childhood form, adult form, and odontohypophosphatasia). Severe types show autosomal recessive inheritance, and mild types show autosomal recessive or autosomal dominant inheritance. The adult form is asymptomatic in childhood. Treatment includes ALP enzyme ...