Hypophosphatasia: Genetic and Dental Studies
Authors: B. PIMSTONE
Journal: Annals of Internal Medicine (1966)

Article1 October 1966Hypophosphatasia: Genetic and Dental StudiesB. PIMSTONE, M.D., F.R.C.P., E. EISENBERG, M.D., F.A.C.P., S. SILVERMAN, D.D.S.B. PIMSTONE, M.D., F.R.C.P.Search for more papers by this author, E. EISENBERG, M.D., F.A.C.P.Search for more papers by this author, S. SILVERMAN, D.D.S.Search for more papers by this authorAuthor, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-65-4-722 SectionsAboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail ExcerptHypophosphatasia is considered to be an inborn error in metabolism, the cardinal features of which are impaired mineralization of bone, reduced tissue and plasma alkaline phosphatase activity, and excretion of phosphoethanolamine in the urine. Three clinical types are recognized: [1] infantile (symptoms beginning between birth and 6 months and characterized by severe softening of bones, fever, anemia, vomiting, hypercalcemia and high mortality), [2] childhood (symptoms beginning between 6 and 24 months and characterized by milder bone lesions, bowing of legs when the child begins to walk, and premature loss of teeth), and [3] adult (bone pains, "pathologic" fractures and a...References1. SCHNEIDERCORCORAN RWAC: Familial nephrogenic osteopathy due to excessive tubular reabsorption of inorganic phosphate: a new syndrome and a novel mode of relief. J. Lab. Clin. Med. 36: 985, 1950. Google Scholar2. FRASER D: Hypophosphatasia. Amer. J. Med. 22: 730, 1957. CrossrefMedlineGoogle Scholar3. HARRISROBSON HEB: A genetical study of ethanolamine phosphate excretion in hypophosphatasia. Ann. Hum. Genet. 23: 421, 1959. CrossrefMedlineGoogle Scholar4. RATHBUNMACDONALDROBINSONWANKLIN JCJWHMJM: Hypophosphatasia: a genetic study. Arch. Dis. Child. 36: 540, 1961. CrossrefMedlineGoogle Scholar5. SILVERMAN JL: Apparent dominant inheritance of hypophosphatasia, Arch. Intern. Med. (Chicago) 110: 191, 1962. CrossrefMedlineGoogle Scholar6. GOYER RA: Ethanolamine phosphate excretion in a family with hypophosphatasia. Arch. Dis. Child. 38: 205, 1963. CrossrefMedlineGoogle Scholar7. LOKENTEALEISENBERG HFJSE: Flame spectrophotometry of calcium with reversed oxyacetylene flame. Anal. Chem. 35: 875, 1963. CrossrefGoogle Scholar8. TAUSSKYSHORR HHE: A microcolorimetric method for the determination of inorganic phosphorus. J. Biol. Chem. 202: 675, 1953. CrossrefMedlineGoogle Scholar9. SHINOWARAJONESREINHART GYLMHL: The estimation of serum inorganic phosphate and "acid" and "alkaline" phosphatase activity. J. Biol. Chem. 142: 921, 1942. CrossrefGoogle Scholar10. EFRON ML: Two-way separation of amino acids and other ninhydrin reacting substances by high-voltage electrophoresis followed by paper chromatography. Biochem. J. 72: 691, 1959. CrossrefMedlineGoogle Scholar11. BANDURSKIAXELROD RSB: The chromatographic identification of some biologically important phosphate esters. J. Biol. Chem. 193: 405, 1951. CrossrefMedlineGoogle Scholar12. PIMSTONEEISENBERG BLE: Studies in hypophosphatasia. In preparation. Google Scholar13. BAERBROWNHAMNER PNNCJE: Hypophosphatasia: report of two cases with dental findings. Periodontics 2: 209, 1964. Google Scholar14. BRUCKNERRICKLESPORTER RJNHDR: Hypophosphatasia with premature shedding of teeth and aplasia of cementum. Oral Surg. 15: 1351, 1962. CrossrefMedlineGoogle Scholar15. ERIKSENROWE DEN: Histologic study of some characteristics of deciduous tooth cementum. Abstracts of the Fortieth General Meeting of the International Association for Dental Research, St. Louis, Missouri, March 15-18, 1962. Google Scholar16. SCHLESINGERLUDERBODIAN BJM: Rickets with alkaline phosphatase deficiency: an osteoblastic dysplasia. Arch. Dis. Child. 30: 265, 1955. CrossrefMedlineGoogle Scholar17. CURRARINONEUHAUSERREYERSBACHSOBEL GEBGCEH: Hypophosphatasia. Amer. J. Roentgen. 78: 392, 1957. Google Scholar This content is PDF only. To continue reading please click on the PDF icon. Author, Article, and Disclosure InformationAffiliations: San Francisco, CaliforniaFrom the Department of Medicine, University of California School of Medicine, and the Division of Oral Biology, University of California School of Dentistry, San Francisco, Calif.This work was supported by grants AM-07792 and FR-5355, National Institutes of Health, Bethesda, Md.Dr. Pimstone was an Eli Lilly Research Fellow.Requests for reprints should be addressed to Eugene Eisenberg, M.D., Department of Medicine, University of California Medical Center, San Francisco, Calif. 94122. 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ROBERT ARNSTEIN, M.D., BOY FRAME, M.D., F.A.C.P., HAROLD M. FROST, M.D.Isoenzymes of Human Alkaline Phosphatase 1 October 1966Volume 65, Issue 4Page: 722-729KeywordsBoneBone and mineral metabolismExcretionInborn errors of metabolismLesionsMortalityOral medicinePhosphatasesUrineVomiting ePublished: 1 December 2008 Issue Published: 1 October 1966 PDF downloadLoading ...