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ALKAPTONURIA WITH HYPERURICEMIA

ALKAPTONURIA WITH HYPERURICEMIA Abstract Alkaptonuria is an unusual disease, but the metabolic disorder which it represents assumes considerable importance because of the light it sheds on the normal catabolism of two essential amino acids. The existence of the disease has apparently been known since the sixteenth century,1 but only with the more recent knowledge of amino acid metabolism has its true nature been understood. It may be regarded as a deficiency disease, the deficiency probably being intrinsic rather than extrinsic. Although the deficient factor is not known, it is presumably a catalyst for a specific stage in the breakdown of tyrosine and phenylalanine. This will be considered later and in greater detail. The clinical detection of alkaptonuria is usually simple. The most common history obtained is that of a peculiar blackening or darkening of an infant's urine-moistened diaper when it is exposed to air. Sometimes the urine is abnormally dark when voided. Occasionally, References 1. Garrod, A. E.: Inborn Errors of Metabolism , ed. 2, London, Oxford University Press, 1923. 2. Virchow, R.: Ein Fall von allgemeiner Ochronose der Knorpel und knorpläpnlicher Theile , Virchows Arch. f. path. Anat. 37:212, 1866.Crossref 3. Albrecht, H.: Ueber Ochronose , Ztschr. f. Heilk. 23:366, 1902. 4. Söderbergh, G.: Ueber Ostitis deformans ochronotica , Neurol. Centralbl. 21: 1362, 1913. 5. Osler, W.: The Pigmentation of Cartilages, Sclerotics, and Skin in Alkaptonuria , Lancet 1:10, 1904.Crossref 6. Söderbergh, G.: Zur Klinik der Alkaptonurie , Nord. med. ark. , 1915, vol. 48, no. (3) and no. 4. 7. Bödeker, C.: Ueber das Alcapton , Ztschr. f. rat. Med. 7:130, 1859. 8. Bödeker, C.: Das Alkapton , Ann. d. Chem. u. Pharmacol. 117:98, 1861.Crossref 9. Brune, T. B.: A Reducing Substance in Urine, Resembling Glucose , Boston M. & S. J. 115:621, 1886. 10. Bateson, W., in Report of the Evaluation Committee of the Royal Society , London, 1902, no. 1, p. 133, note. 11. Punnett, R. C.: Mendelism in Relation to Disease , Proc. Roy. Soc. Med. (Epidemiol. Sect.) 1:135, 1908. 12. Garrod, A. E.: Inborn Factors in Disease , New York, Oxford University Press, 1931. 13. Wolkow, M., and Baumann, E.: Ueber das Wesen der Alkaptonurie , Ztschr. f. physiol. Chem. 15:228, 1891. 14. Baumann, E., and Fränkel, S.: Ueber die Synthese der Homogentisinsaure , Ztschr. f. physiol. Chem. 20:219, 1895. 15. Osborne, W. A.: A New Synthesis of Homogentisic Acid , Proc. Physiol. Soc. London , 1903, p. xiii. 16. Neubauer, O., and Flatow, L.: Synthesen von Alkaptonsäuren , Ztschr. f. physiol. Chem. 52:375, 1907. 17. Falta, W., and Langstein, L.: Die Entstehung von Homogentisinsaure aus Phenylalanin , Ztschr. f. physiol. Chem. 37:513, 1903. 18. Gibson, R. B., and Howard, C. P.: A Case of Alkaptonuria with a Study of Its Metabolism , Arch. Int. Med. 28:632 ( (Nov.) ) 1921. 19. Papageorge, E. T., and Lewis, H. B.: Comparative Studies of the Metabolism of the Amino Acids: VII. Experimental Alkaptonuria in the White Rat , J. Biol. Chem. 123:211, 1938. 20. Sealock, R. R., and Silberstein, H. E.: The Control of Experimental Alkaptonuria by Means of Vitamin C , Science 90:517, 1939. 21. Sealock, R. R.; Galdston, M., and Steele, J. M.: Administration of Ascorbic Acid to an Alkaptonuric Patient , Proc. Soc. Exper. Biol. & Med. 44: 580, 1940. 22. Papageorge, E. T.; Frohlich, M. M., and Lewis, H. B.: Excretion of Homogentisic Acid After Oral Administration of Phenylalanine to Alcaptonuric Subjects , Proc. Soc. Exper. Biol. & Med. 38:742, 1938. 23. Butts, J. S.; Dunn, M. S., and Hallman, L. F.: Studies in Amino Acid Metabolism: IV. Metabolism of dl-, Phenylalanine and dl-Tyrosine in the White Rat , J. Biol. Chem. 123:711, 1938. 24. Katsch, G.: Alkapton und Aceton , Deutsches Arch. f. klin. Med. 127: 210, 1918 25. 134:59, 1920. 26. Reinwein, H.: Untersuchungen über die Alkaptonurie , Deutsches Arch. f. klin. Med. 170:327, 1931. 27. Diaz, C. J.; Mendoza, H. C., and Rodriguez, J. S.: Alkapton, Aceton, und Kohlhydratmangel , Klin. Wchnschr. 18:965, 1939.Crossref 28. Lieb, H., and Lanyar, F.: Alkaptonurie und Kohlhydratenziehung , Ztschr. f. physiol. Chem. 186:119, 1929. 29. Lieb, H., and Lanyar, F.: Alkaptonurie bei minimaler Eiweisszufuhr , Ztschr. f. physiol. Chem. 186:111, 1929.Crossref 30. Braid, F., and Hickmans, E. M.: Metabolic Study on an Alkaptonuric Infant , Arch. Dis. Childhood 4:389, 1929.Crossref 31. Furniss, H. D.: Alkaptonuria , J. Mt. Sinai Hosp. 4:720, 1938. 32. Schmieding, E.: Stoffwechseluntersuchungen bei kindlicher Alkaptonurie , Monatschr. f. Kinderh. 73:216, 1938. 33. Klein, O., and Bloch, K.: Beseitigung der Alkaptonurie durch parenterale Zufuhr von Leberextrakten , Klin. Wchnschr. 15:1684, 1936.Crossref 34. Mosonyi, L.: A propos de l'alcaptonurie , Presse méd. 47:708, 1939. 35. Baumann, E.: Ueber die Bestimmung der Homogentisinsaure in Alkaptonharn , Ztschr. f. physiol. Chem. 16:268, 1892. 36. Lieb, H., and Lanyar, F.: Ueber die jodometrische Bestimmung der Homogentisinsaure in Harn , Ztschr. f. physiol. Chem. 181:199, 1929.Crossref 37. Gross, O.: Ueber der Einfluss des Blutserums des Normalen und des Alkaptonurikers auf Homogentisinsaure , Biochem. Ztschr. 61:165, 1914. 38. Garrod.1 39. Furniss.30 40. Katsch.24 41. Braid and Hickmans.29 42. Ravold, A., and Warren, W. H.: A Case of Alcaptonuria , J. Biol. Chem. 7:465, 1910. 43. Adler, O.: Ueber Alkaptonurie , Biochem. Ztschr. 21:5, 1910. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Archives of Internal Medicine American Medical Association

ALKAPTONURIA WITH HYPERURICEMIA

Archives of Internal Medicine , Volume 71 (1) – Jan 1, 1943

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American Medical Association
Copyright
Copyright © 1943 American Medical Association. All Rights Reserved.
ISSN
0730-188X
DOI
10.1001/archinte.1943.00210010074006
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Abstract

Abstract Alkaptonuria is an unusual disease, but the metabolic disorder which it represents assumes considerable importance because of the light it sheds on the normal catabolism of two essential amino acids. The existence of the disease has apparently been known since the sixteenth century,1 but only with the more recent knowledge of amino acid metabolism has its true nature been understood. It may be regarded as a deficiency disease, the deficiency probably being intrinsic rather than extrinsic. Although the deficient factor is not known, it is presumably a catalyst for a specific stage in the breakdown of tyrosine and phenylalanine. This will be considered later and in greater detail. The clinical detection of alkaptonuria is usually simple. The most common history obtained is that of a peculiar blackening or darkening of an infant's urine-moistened diaper when it is exposed to air. Sometimes the urine is abnormally dark when voided. Occasionally, References 1. Garrod, A. E.: Inborn Errors of Metabolism , ed. 2, London, Oxford University Press, 1923. 2. Virchow, R.: Ein Fall von allgemeiner Ochronose der Knorpel und knorpläpnlicher Theile , Virchows Arch. f. path. Anat. 37:212, 1866.Crossref 3. Albrecht, H.: Ueber Ochronose , Ztschr. f. Heilk. 23:366, 1902. 4. Söderbergh, G.: Ueber Ostitis deformans ochronotica , Neurol. Centralbl. 21: 1362, 1913. 5. Osler, W.: The Pigmentation of Cartilages, Sclerotics, and Skin in Alkaptonuria , Lancet 1:10, 1904.Crossref 6. Söderbergh, G.: Zur Klinik der Alkaptonurie , Nord. med. ark. , 1915, vol. 48, no. (3) and no. 4. 7. Bödeker, C.: Ueber das Alcapton , Ztschr. f. rat. Med. 7:130, 1859. 8. Bödeker, C.: Das Alkapton , Ann. d. Chem. u. Pharmacol. 117:98, 1861.Crossref 9. Brune, T. B.: A Reducing Substance in Urine, Resembling Glucose , Boston M. & S. J. 115:621, 1886. 10. Bateson, W., in Report of the Evaluation Committee of the Royal Society , London, 1902, no. 1, p. 133, note. 11. Punnett, R. C.: Mendelism in Relation to Disease , Proc. Roy. Soc. Med. (Epidemiol. Sect.) 1:135, 1908. 12. Garrod, A. E.: Inborn Factors in Disease , New York, Oxford University Press, 1931. 13. Wolkow, M., and Baumann, E.: Ueber das Wesen der Alkaptonurie , Ztschr. f. physiol. Chem. 15:228, 1891. 14. Baumann, E., and Fränkel, S.: Ueber die Synthese der Homogentisinsaure , Ztschr. f. physiol. Chem. 20:219, 1895. 15. Osborne, W. A.: A New Synthesis of Homogentisic Acid , Proc. Physiol. Soc. London , 1903, p. xiii. 16. Neubauer, O., and Flatow, L.: Synthesen von Alkaptonsäuren , Ztschr. f. physiol. Chem. 52:375, 1907. 17. Falta, W., and Langstein, L.: Die Entstehung von Homogentisinsaure aus Phenylalanin , Ztschr. f. physiol. Chem. 37:513, 1903. 18. Gibson, R. B., and Howard, C. P.: A Case of Alkaptonuria with a Study of Its Metabolism , Arch. Int. Med. 28:632 ( (Nov.) ) 1921. 19. Papageorge, E. T., and Lewis, H. B.: Comparative Studies of the Metabolism of the Amino Acids: VII. Experimental Alkaptonuria in the White Rat , J. Biol. Chem. 123:211, 1938. 20. Sealock, R. R., and Silberstein, H. E.: The Control of Experimental Alkaptonuria by Means of Vitamin C , Science 90:517, 1939. 21. Sealock, R. R.; Galdston, M., and Steele, J. M.: Administration of Ascorbic Acid to an Alkaptonuric Patient , Proc. Soc. Exper. Biol. & Med. 44: 580, 1940. 22. Papageorge, E. T.; Frohlich, M. M., and Lewis, H. B.: Excretion of Homogentisic Acid After Oral Administration of Phenylalanine to Alcaptonuric Subjects , Proc. Soc. Exper. Biol. & Med. 38:742, 1938. 23. Butts, J. S.; Dunn, M. S., and Hallman, L. F.: Studies in Amino Acid Metabolism: IV. Metabolism of dl-, Phenylalanine and dl-Tyrosine in the White Rat , J. Biol. Chem. 123:711, 1938. 24. Katsch, G.: Alkapton und Aceton , Deutsches Arch. f. klin. Med. 127: 210, 1918 25. 134:59, 1920. 26. Reinwein, H.: Untersuchungen über die Alkaptonurie , Deutsches Arch. f. klin. Med. 170:327, 1931. 27. Diaz, C. J.; Mendoza, H. C., and Rodriguez, J. S.: Alkapton, Aceton, und Kohlhydratmangel , Klin. Wchnschr. 18:965, 1939.Crossref 28. Lieb, H., and Lanyar, F.: Alkaptonurie und Kohlhydratenziehung , Ztschr. f. physiol. Chem. 186:119, 1929. 29. Lieb, H., and Lanyar, F.: Alkaptonurie bei minimaler Eiweisszufuhr , Ztschr. f. physiol. Chem. 186:111, 1929.Crossref 30. Braid, F., and Hickmans, E. M.: Metabolic Study on an Alkaptonuric Infant , Arch. Dis. Childhood 4:389, 1929.Crossref 31. Furniss, H. D.: Alkaptonuria , J. Mt. Sinai Hosp. 4:720, 1938. 32. Schmieding, E.: Stoffwechseluntersuchungen bei kindlicher Alkaptonurie , Monatschr. f. Kinderh. 73:216, 1938. 33. Klein, O., and Bloch, K.: Beseitigung der Alkaptonurie durch parenterale Zufuhr von Leberextrakten , Klin. Wchnschr. 15:1684, 1936.Crossref 34. Mosonyi, L.: A propos de l'alcaptonurie , Presse méd. 47:708, 1939. 35. Baumann, E.: Ueber die Bestimmung der Homogentisinsaure in Alkaptonharn , Ztschr. f. physiol. Chem. 16:268, 1892. 36. Lieb, H., and Lanyar, F.: Ueber die jodometrische Bestimmung der Homogentisinsaure in Harn , Ztschr. f. physiol. Chem. 181:199, 1929.Crossref 37. Gross, O.: Ueber der Einfluss des Blutserums des Normalen und des Alkaptonurikers auf Homogentisinsaure , Biochem. Ztschr. 61:165, 1914. 38. Garrod.1 39. Furniss.30 40. Katsch.24 41. Braid and Hickmans.29 42. Ravold, A., and Warren, W. H.: A Case of Alcaptonuria , J. Biol. Chem. 7:465, 1910. 43. Adler, O.: Ueber Alkaptonurie , Biochem. Ztschr. 21:5, 1910.

Journal

Archives of Internal MedicineAmerican Medical Association

Published: Jan 1, 1943

References