title: Hypophosphatasia: a family study involving a case diagnosed from gingival crevicular fluid.
abstract: Hypophosphatasia is an inherited disorder characterized by defective mineralization of the skeletal and dental structures of the body and deficient liver/bone/kidney alkaline phosphatase (L/B/K ALP) activity. There has been a tremendous advance in our knowledge of this condition over the last decade due to the advent of highly specific DNA probes and novel microanalytic techniques. The purpose of this paper is threefold: to review the dental aspects of current literature about this rare condition; to present a case (and family study) that was diagnosed in a 5-yr-old boy from 0.14 microliters of gingival crevicular fluid, using a new ultrasensitive chemiluminescent assay for the enzyme alkaline phosphatase; and to provide strong evidence for an autosomal dominant mode of inheritance.
authors.affiliation: Department of Dentistry, Birmingham Dental School, England.
authors.forename: I L
authors.initials: IL
authors.lastname: Chapple
authors.forename: G H
authors.initials: GH
authors.lastname: Thorpe
authors.forename: J M
authors.initials: JM
authors.lastname: Smith
authors.forename: M S
authors.initials: MS
authors.lastname: Saxby
authors.forename: H D
authors.initials: HD
authors.lastname: Glenwright
authors.forename: A
authors.initials: A
authors.lastname: Green
authors.forename: G M
authors.initials: GM
authors.lastname: Perry
authors.forename: M
authors.initials: M
authors.lastname: Grundy
authors.forename: L
authors.initials: L
authors.lastname: Shaw
authors.forename: J B
authors.initials: JB
authors.lastname: Matthews
mesh_terms: D000218:Adamantane / Q000031:analogs & derivatives; D000469:Alkaline Phosphatase / Q000032:analysis* / Q000097:blood; D002675:Child, Preschool; D005883:Gingival Crevicular Fluid / Q000201:enzymology*; D006801:Humans; D007014:Hypophosphatasia / Q000201:enzymology* / Q000235:genetics*; D007202:Indicators and Reagents; D008163:Luminescent Measurements; D008297:Male; D010375:Pedigree; D014080:Tooth Exfoliation / Q000473:pathology
chemical_list: D007202:Indicators and Reagents; C061523:3-(2'-spiroadamantane)-4-methoxy-4-(3''-phosphoryloxy)phenyl-1,2-dioxetane; D000469:Alkaline Phosphatase; D000218:Adamantane