title: Raised urinary excretion of inorganic pyrophosphate in asymptomatic members of a hypophosphatasia kindred.
abstract: We report the screening of an Anglo-Welsh kindred in which two children were affected by different clinical forms of hypophosphatasia. Among the clinically normal adult members of the kindred, a raised urinary concentration of pyrophosphate was the commonest biochemical abnormality. The concentration of phosphate in serum was elevated in only one adult member of the kindred, the mother of the propositus. Consanguinity in this kindred suggests probable recessive inheritance, and the obligate heterozygotes each exhibited a low serum AP activity plus one other biochemical abnormality indicative of a carrier state.
authors.affiliation: Department of Rheumatology, University of Leiden, The Netherlands.
authors.forename: J D
authors.initials: JD
authors.lastname: Macfarlane
authors.forename: B J
authors.initials: BJ
authors.lastname: Poorthuis
authors.forename: R A
authors.initials: RA
authors.lastname: Mulivor
authors.forename: A M
authors.initials: AM
authors.lastname: Caswell
mesh_terms: D000328:Adult; D000368:Aged; D015415:Biomarkers / Q000097:blood; D002585:Cesarean Section; D011756:Diphosphates / Q000652:urine*; D004200:Diseases in Twins; D005260:Female; D006801:Humans; D007014:Hypophosphatasia / Q000235:genetics* / Q000652:urine*; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D011247:Pregnancy
chemical_list: D015415:Biomarkers; D011756:Diphosphates