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Tissue Alkaline Phosphatase in Hypophosphatasia

Tissue Alkaline Phosphatase in Hypophosphatasia Abstract Hypophosphatasia is an unusual disease of childhood characterized by abnormalities of bone and low alkaline phosphatase activity in the serum. Since the first report by Rathbun,1 in 1948, a number of additional cases have been recorded. The disease appears to be genetic in origin and is believed to be transmitted through the action of a recessive gene.2 Hypophosphatasia does not present a single uniform clinical picture. In a recent review Fraser2 classified the disease into three main groups. The first group consists of infants with severe bone deformities in whom the lesions either are present at birth or appear within the first 6 months of life. Many of these infants have convulsive seizures. This infantile form of hypophosphatasia has an unfavorable prognosis, and most of these patients die at an early age as a result of intercurrent infection. The second group of cases of hypophosphatasia is characterized References 1. Rathbun, J. C.: "Hypophosphatasia," a New Developmental Anomaly , Am. J. Dis. Child. 75 ; 822, 1948. 2. Fraser, D.: Hypophosphatasia , Am. J. Med. 22: 730, 1957.Crossref 3. Fraser, D.: Personal communication to the authors. 4. Currarino, G.; Neuhauser, E.B.D.; Reyersbach, G.C., and Sobel, E.H.: Hypophosphatasia , Am. J. Roentgenol. 78: 392, 1957. 5. Engfeldt, B., and Zetterstrom, R.: Osteodysmetamorphosis Fetalis , J. Pediat. 45:125, 1954.Crossref 6. McCance, R. A.; Fairweather, D. V. I.; Barrett, A. M., and Morrison, A. B.: Genetic, Clinical, Biochemical and Pathological Features of Hypophosphatasia , Quart. J. Med. 25:523, 1956. 7. Sobel, E. H.; Clark, L. C.; Fox, R. P., and Rubinow, M.: Rickets, Deficiency of "Alkaline" Phosphatase Activity and Premature Loss of Teeth in Childhood , Pediatrics 11:309, 1953. 8. Scaglione, P. R., and Lucey, J. F.: Further Observations on Hypophosphatasia , A.M.A. J. Dis. Child. 92:493, 1956. 9. Schlesinger, B.; Luder, J., and Bodian, M.: Rickets with Alkaline Phosphatase Deficiency: An Osteoblastic Dysplasia , Arch. Dis. Childhood 30: 265, 1955.Crossref 10. Woodard, H. Q.: Acid and Alkaline Glycerophosphatase in Tissue and Serum , Cancer Res. 2:497, 1942. 11. Woodard, H. Q.: Quantitative Studies of Beta-Glycerophosphatase Activity in Normal and Neoplastic Tissues , Cancer 9:352, 1956.Crossref 12. Bodansky, A.: Phosphatase Studies: I. Determination of Inorganic Phosphate; Beer's Law and Interfering Substances in the Kuttner-Lichtenstein Method , J. Biol. Chem. 99:197, 1932. 13. Bonting, S. L.; Pollak, V. E.; Muehrcke, R. C., and Kark, R. M.: Quantitative Histochemistry of the Nephron , Science 127:1342, 1958.Crossref 14. Bonting, S. L.; Muehrcke, R. C.; Pollak, V. E., and Kark, R. M.: To be published. 15. Schlamowitz, M.: Immunochemical Studies on Alkaline Phosphatase , Ann. New York Acad. Sc. 75:373, 1958.Crossref 16. Roche, J., in Summer, J. B., and Myrbäck, K., editors: The Enzymes , Vol. I, (Pt 1) , New York, Academic Press, Inc., 1950, p. 504. 17. Bonting, S. L.: To be published. 18. Gibbs, E. L.; Fleming, M. M., and Gibbs, F. A.: Diagnosis and Prognosis of Hypsarhythmia and Infantile Spasms , Pediatrics 13:66, 1954. 19. Sorel, L., and Dusaucy-Bauloye, A.: Á propos de 21 Cas d'hypsarhythmia de Gibbs: Son traitement spectaculaire par l' ACTH , Acta neurol. et psychiat. belg. 58:130, 1958. 20. Stamps, F.; Gibbs, E. L.; Gibbs, F. A., and Rosenthal, I. M.: Experience with ACTH Treatment of Hypsarhythmia, in Proceedings of the 3d Scientific Conference of the Brain Research Foundation, Chicago, March 31, 1958, to be published. 21. Kretchmer, N.; Stone, M., and Bauer, C.: Enzymatic Defects as Illustrated by Hypophosphatasia , Ann. New York Acad. Sc. 75:279, 1958.Crossref 22. Rosenthal, I. M.; Bonting, S. L., and Pollak, V. E.: To be published. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png A.M.A. Journal of Diseases of Children American Medical Association

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Publisher
American Medical Association
Copyright
Copyright © 1960 American Medical Association. All Rights Reserved.
ISSN
0096-6916
DOI
10.1001/archpedi.1960.02070030187006
Publisher site
See Article on Publisher Site

Abstract

Abstract Hypophosphatasia is an unusual disease of childhood characterized by abnormalities of bone and low alkaline phosphatase activity in the serum. Since the first report by Rathbun,1 in 1948, a number of additional cases have been recorded. The disease appears to be genetic in origin and is believed to be transmitted through the action of a recessive gene.2 Hypophosphatasia does not present a single uniform clinical picture. In a recent review Fraser2 classified the disease into three main groups. The first group consists of infants with severe bone deformities in whom the lesions either are present at birth or appear within the first 6 months of life. Many of these infants have convulsive seizures. This infantile form of hypophosphatasia has an unfavorable prognosis, and most of these patients die at an early age as a result of intercurrent infection. The second group of cases of hypophosphatasia is characterized References 1. Rathbun, J. C.: "Hypophosphatasia," a New Developmental Anomaly , Am. J. Dis. Child. 75 ; 822, 1948. 2. Fraser, D.: Hypophosphatasia , Am. J. Med. 22: 730, 1957.Crossref 3. Fraser, D.: Personal communication to the authors. 4. Currarino, G.; Neuhauser, E.B.D.; Reyersbach, G.C., and Sobel, E.H.: Hypophosphatasia , Am. J. Roentgenol. 78: 392, 1957. 5. Engfeldt, B., and Zetterstrom, R.: Osteodysmetamorphosis Fetalis , J. Pediat. 45:125, 1954.Crossref 6. McCance, R. A.; Fairweather, D. V. I.; Barrett, A. M., and Morrison, A. B.: Genetic, Clinical, Biochemical and Pathological Features of Hypophosphatasia , Quart. J. Med. 25:523, 1956. 7. Sobel, E. H.; Clark, L. C.; Fox, R. P., and Rubinow, M.: Rickets, Deficiency of "Alkaline" Phosphatase Activity and Premature Loss of Teeth in Childhood , Pediatrics 11:309, 1953. 8. Scaglione, P. R., and Lucey, J. F.: Further Observations on Hypophosphatasia , A.M.A. J. Dis. Child. 92:493, 1956. 9. Schlesinger, B.; Luder, J., and Bodian, M.: Rickets with Alkaline Phosphatase Deficiency: An Osteoblastic Dysplasia , Arch. Dis. Childhood 30: 265, 1955.Crossref 10. Woodard, H. Q.: Acid and Alkaline Glycerophosphatase in Tissue and Serum , Cancer Res. 2:497, 1942. 11. Woodard, H. Q.: Quantitative Studies of Beta-Glycerophosphatase Activity in Normal and Neoplastic Tissues , Cancer 9:352, 1956.Crossref 12. Bodansky, A.: Phosphatase Studies: I. Determination of Inorganic Phosphate; Beer's Law and Interfering Substances in the Kuttner-Lichtenstein Method , J. Biol. Chem. 99:197, 1932. 13. Bonting, S. L.; Pollak, V. E.; Muehrcke, R. C., and Kark, R. M.: Quantitative Histochemistry of the Nephron , Science 127:1342, 1958.Crossref 14. Bonting, S. L.; Muehrcke, R. C.; Pollak, V. E., and Kark, R. M.: To be published. 15. Schlamowitz, M.: Immunochemical Studies on Alkaline Phosphatase , Ann. New York Acad. Sc. 75:373, 1958.Crossref 16. Roche, J., in Summer, J. B., and Myrbäck, K., editors: The Enzymes , Vol. I, (Pt 1) , New York, Academic Press, Inc., 1950, p. 504. 17. Bonting, S. L.: To be published. 18. Gibbs, E. L.; Fleming, M. M., and Gibbs, F. A.: Diagnosis and Prognosis of Hypsarhythmia and Infantile Spasms , Pediatrics 13:66, 1954. 19. Sorel, L., and Dusaucy-Bauloye, A.: Á propos de 21 Cas d'hypsarhythmia de Gibbs: Son traitement spectaculaire par l' ACTH , Acta neurol. et psychiat. belg. 58:130, 1958. 20. Stamps, F.; Gibbs, E. L.; Gibbs, F. A., and Rosenthal, I. M.: Experience with ACTH Treatment of Hypsarhythmia, in Proceedings of the 3d Scientific Conference of the Brain Research Foundation, Chicago, March 31, 1958, to be published. 21. Kretchmer, N.; Stone, M., and Bauer, C.: Enzymatic Defects as Illustrated by Hypophosphatasia , Ann. New York Acad. Sc. 75:279, 1958.Crossref 22. Rosenthal, I. M.; Bonting, S. L., and Pollak, V. E.: To be published.

Journal

A.M.A. Journal of Diseases of ChildrenAmerican Medical Association

Published: Feb 1, 1960

References