Bone Abstracts

see P475....

Hypophosphatasia (HPP) is the rare inherited metabolic disease caused by loss-of-function mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene. TNSALP deficiency leads to extracellular excess of inorganic pyrophosphate, a bone mineralization inhibitor. Here, we report the validity and reproducibility of a novel scale to quantify HPP-specific radiographic changes in pediatric patients.The Radiographic Global Impression of Change (RGI-C) ...

Objectives: Hypophosphatasia (HPP) is the rare inherited metabolic disease caused by low tissue nonspecific alkaline phosphatase activity. HPP manifests a wide spectrum of complications, which may include HPP-related rickets and compromised physical function in children.Methods: We report on clinical gait assessments based on archival video recordings of six children with onset of HPP symptoms at ≧6 months and documented HPP-related skeletal abnor...

Objective: Mobility is an important endpoint in patient care with implications for activities of daily living, community participation, and quality of life. We adapted the performance-oriented mobility assessment (POMA-G),1 a widely used and validated clinical gait assessment tool for adults, to use in children with hypophosphatasia (HPP). HPP is the rare metabolic disease caused by loss-of-function mutation(s) in the gene encoding tissue non-specific alkaline phosp...

Objective: Hypophosphatasia (HPP) is a rare, inherited metabolic disease characterized by bone mineralization defects and osteomalacia, as well as systemic manifestations, including seizures, respiratory insufficiency, muscle weakness, nephrocalcinosis, and pain. The biochemical hallmark of HPP is low serum alkaline phosphatase, resulting from loss-of-function mutations in the gene encoding tissue non-specific alkaline phosphatase. HPP presents a broad spectrum of disease seve...