Increased Serum Pyridoxal-5′-Phosphate in Pseudohypophosphatasia

Publisher Website
Google Scholar
Abstract
To the Editor: Pseudohypophosphatasia is a rare metabolic bone disease that was first described in one child 17 years ago by Scriver and Cameron in the Journal.1 The patient had the typical findings of classic hypophosphatasia, including clinical and radiographic features of rickets and phosphoethanolaminuria; however, the circulating alkaline phosphatase activity (as measured in clinical assays) was normal. Scriver and Cameron suggested that the disorder resulted from a selective defect in the affinity of the enzyme for endogenous substrates.This patient is now a 22-year-old college student. She is nearly edentulous and has a slightly reduced stature (148 cm) . . .