Newborn screening for hypophosphatasia: development of a high-throughput tissue nonspecific alkaline phosphatase activity assay using dried blood spots.

ABSTRACT: Hypophosphatasia (HPP) is an inherited metabolic disease caused by deficiency of tissue nonspecific alkaline phosphatase (TNAP) caused by pathogenic variants of the ALPL gene (MIM 171760). The clinical manifestations of HPP vary, ranging from a lethal perinatal-onset type to a moderate late-onset type presenting with nonspecific symptoms, such as arthropathy and musculoskeletal pain. HPP is characterized by low TNAP activity and defective bone mineralization, leading to bone deformity and skeletal abnormalities. Moreover, this disease can cause systemic complications, such as muscle weakness, seizures, pain, and respiratory failure, leading to premature death in infants. This study aimed to evaluate whether measuring TNAP activity in dried blood spots (DBSs) can identify patients wi

SUBMITTER: Noda Y 

PROVIDER: S-EPMC11803525 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature