P049: Prenatal diagnosis of hypophosphatasia and long-term outcomes following early neonatal asfotase alfa treatment

Genetics in Medicine Open 2026 Open access

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Authors: Megan Raymond, Plamena Simeonova, Amy M. Patterson, Julie Elizabeth Hoover-Fong
DOI: 10.1016/j.gimo.2026.103540
Cited by: 0

Abstract

Hypophosphatasia (HPP) is caused by one or two deleterious variants in the alkaline phosphatase (ALPL) gene and characterized by defective mineralization of growing or remodeling bone, with or without root-intact tooth loss, in the presence of low activity of serum and bone alkaline phosphatase (ALP). HPP has significant phenotypic variability within affected families and across the disease continuum including perinatal/severe, perinatal/benign, infantile, childhood, adult, and odontohypophosphatasia.

Fields of Study & Subjects

Alkaline Phosphatase Research Studies Parathyroid Disorders and Treatments Dermatological and Skeletal Disorders

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
103540–103540
Publication date
1 January 2026
Language
EN