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Growth in Glycogen-Storage Disease Type 1: Evaluation of Endocrine Function

Growth in Glycogen-Storage Disease Type 1: Evaluation of Endocrine Function Abstract GLYCOGEN-storage disease (GSD) type 1 is an inborn error of carbohydrate metabolism resulting in diminished activity of the enzyme glucose-6-phosphatase in the liver,1 kidney,2 and small intestine.3 Clinically, the disease is characterized by hypoglycemic seizures, lactic acidosis, hyperuricemia,4 hyperlipidemia,5 hepatomegaly, short stature, and retarded development of secondary sex characteristics. The pattern of growth and sexual development in patients with GSD type 1 is suggestive of a deficiency of one or more of the pituitary trophic hormones. Therefore we have investigated those functions which influence growth and sexual development in patients with this disorder. genital defect may be strengthened. Report of Cases Four patients (patient 1, a 21-year-old white man; patient 2, a 17-year-old oriental girl; pa tient 3, a 14-year-old white girl; and patient 4, a 13-year-old white boy) with GSD, type 1, who met the following biochemical criteria were studied: (1) no increase in the References 1. Cori, G.T., and Cori, C.F.: Glucose-6-Phosphatase of the Liver in Glycogen Storage Disease , J Biol Chem 199:661-667 ( (Dec) ) 1952. 2. Harris, R.C., and Olmo, C.: Liver and Kidney Glucose-6-Phosphatase Activity in Children With Normal and Diseased Organs , J Clin Invest 33: 1204-1209 ( (Sept) ) 1954.Crossref 3. Fields, J.B.; Ebstein, S.; and Egan, T.: Studies in Glycogen Storage Disease: I. Intestinal Glucose-6-Phosphatase Activity in Patients With Von Gierke's Disease and Their Parents , J Clin Invest 44:1240-1247 ( (July) ) 1965.Crossref 4. Fine, R.N.; Strauss, J.; and Donnell, G.N.: Hyperuricemia in Glycogen-Storage Disease Type 1 , Amer J Dis Child 112:572-576 ( (Dec) ) 1966.Crossref 5. Jakovcic, S.; Khachadurian, A.; and Hsia, D.Y.: The Hyperlipidemia in Glycogen Storage Disease , J Lab Clin Med 68:769-779 ( (Nov) ) 1966. 6. Barker, S.B.; Humphrey, M.J.; and Saley, M.H.: The Clinical Determination of Protein-Bound Iodine , J Clin Invest 30:55-62 ( (Jan) ) 1951.Crossref 7. Bradbury, S.T.; Brown, E.; and Brown, W.E.: Absorption of Urinary Gonadotropins on Koolin , Proc Soc Exper Biol Med 71:228-232 ( (June) ) 1949.Crossref 8. Brown, J.B.; Bulbrook, R.D.; and Greenwood, F.C.: Additional Purification Step for Method of Estimating Oestroil, Oestrone and Oestradial-17 Beta in Human Urine , J Endocr 16:49-56 ( (Nov) ) 1957.Crossref 9. Callow, N.H.; Callow, R.K.; and Emmens, C.W.: Colorimetric Determination of Substances Containing Grouping—CH2CO—in Urine Extracts as Indication of Androgen Content , Biochem J 32: 1312-1331 ( (Aug) ) 1938. 10. Rutherford, E.R., and Nelson, D.H.: Determination of Urinary 17-Ketogenic Steroids by Means of Sodium Metaperiodate Oxidation , J Clin Endocr 23:533-538 ( (June) ) 1963.Crossref 11. Saifer, A., and Gerstenfeld, S.: The Photometric Microdetermination of Blood Glucose With Glucase Oxidase , J Lab Clin Med 51:448-460 ( (March) ) 1958. 12. Barker, S.B., and Summerson, W.H.: The Colorimetric Determination of Lactic Acid in Biological Material , J Biol Chem 138:535-554 ( (April) ) 1941. 13. Dole, V.P., and Meinertz, H.: Microdetermina- tion of Long-Chain Fatty Acids in Plasma and Tissues , J Biol Chem 235:2595-2599 ( (Sept) ) 1960. 14. Morgan, C.R., and Lazarow, A.: Immunoassay of Insulin: Two Anti-body Systems , Diabetes 12: 115-126 ( (March) -April) 1963. 15. Glick, S.M., et al: Immunoassay of Human Growth Hormone on Plasma , Nature 199:784-787 ( (Aug 24) ) 1963.Crossref 16. Frasier, S.D.: The Serum Growth Hormone Response to Hypoglycemia in Dwarfism , J Pediat 71:625-638 ( (Nov) ) 1967.Crossref 17. Field, R.A.: "Glycogen Deposition Diseases," in Stanbury, J.B.; Wyngaarden, J.B.; and Frederickson, D.S. (eds.): The Metabolic Basis of Inherited Diseases , ed 2, New York: McGraw-Hill Book Co., 1966, p 158. 18. Brandte, G.; Kayser, K.; and Ockerman, P.A.: Glycogenosis Type 1 in Four Siblings , Acta Paediat (suppl) 157, pp 1-28, 1964. 19. Holling, H.E.: Gout and Glycogen Storage Disease , Ann Intern Med 58:654-663 ( (April) ) 1963.Crossref 20. Alepa, F.P., et al: Relationships Between Glycogen Storage Disease and Tophaceous Gout , Amer J Med 42:58-66 ( (Jan) ) 1967.Crossref 21. Roth, J., et al: Hypoglycemia: A Patent Stimulus to Secretion of Growth Hormone , Science 140: 987-988 ( (May 31) ) 1963.Crossref 22. Merimee, T.J.; Lillicrap, D.A.; and Rabinowitz, D.: Effect of Arginine on Serum Levels of Human Growth Hormone , Lancet 2:668-670 ( (Oct 2) ) 1965.Crossref 23. Roth, J., et al: Secretion of Human Growth Hormone: Physiologic and Experimental Modification , Metabolism 12:577-579 ( (July) ) 1963. 24. Frantz, A.G., and Rabkin, T.M.: Effects of Estrogen and Sex Difference on Secretion of Human Growth Hormone , J Clin Endocr 25:1470-1480 ( (Nov) ) 1965.Crossref 25. Merimee, T.J.; Burgess, J.A.; and Rabinowitz, D.: Sex Determined Variation in Serum Insulin and Growth Hormone Response to Aminoacid Stimulus , J Clin Endocr 26:791-793 ( (July) ) 1966.Crossref 26. West, C.D., and Smith, W.C.: An Attempt to Elucidate the Cause of Growth Retardation in Renal Disease , Amer J Dis Child 91:460-476 ( (May) ) 1956. 27. Kipnis, D.M., and Stein, M.F.: Insulin Antagonism: Fundamental Considerations , Ciba Colloquia on Endocrinology 15:156-191 1965. 28. Weber, G., et al: Feedback Inhibition of Key Glycolytic Enzymes in Liver: Action of Free Fatty Acids , Science 154:1352-1360 ( (Dec 9) ) 1966.Crossref 29. Kostyo, J.L.; Hotchkiss, J.; and Knobil, E.: Stimulation of Amino Acid Transport in Isolated Diaphragm by Growth Hormone Added In Vitro , Science 130:1653-1654 ( (Dec 11) ) 1959.Crossref 30. Kostyo, J.L., and Knobil, E.: The Effect of Growth Hormone on the In Vitro Incorporation of Leucine-2-C14 in the Protein of Rat Diaphragm , Endocrinology 65:395-401 ( (Sept) ) 1959.Crossref 31. Riddell, A.G.; Davies, R.P.; and Clark, A.D.: Portacaval Transposition in the Treatment of Glycogen Storage Disease , Lancet 2:1146-1148 ( (Nov 26) ) 1966.Crossref 32. Marchioro, T.L., et al: The Effect of Partial Transposition on the Canine Liver , Surgery 61: 723-732 ( (May) ) 1967. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png American Journal of Diseases of Children American Medical Association

Growth in Glycogen-Storage Disease Type 1: Evaluation of Endocrine Function

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Publisher
American Medical Association
Copyright
Copyright © 1969 American Medical Association. All Rights Reserved.
ISSN
0002-922X
DOI
10.1001/archpedi.1969.02100030171009
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Abstract

Abstract GLYCOGEN-storage disease (GSD) type 1 is an inborn error of carbohydrate metabolism resulting in diminished activity of the enzyme glucose-6-phosphatase in the liver,1 kidney,2 and small intestine.3 Clinically, the disease is characterized by hypoglycemic seizures, lactic acidosis, hyperuricemia,4 hyperlipidemia,5 hepatomegaly, short stature, and retarded development of secondary sex characteristics. The pattern of growth and sexual development in patients with GSD type 1 is suggestive of a deficiency of one or more of the pituitary trophic hormones. Therefore we have investigated those functions which influence growth and sexual development in patients with this disorder. genital defect may be strengthened. Report of Cases Four patients (patient 1, a 21-year-old white man; patient 2, a 17-year-old oriental girl; pa tient 3, a 14-year-old white girl; and patient 4, a 13-year-old white boy) with GSD, type 1, who met the following biochemical criteria were studied: (1) no increase in the References 1. Cori, G.T., and Cori, C.F.: Glucose-6-Phosphatase of the Liver in Glycogen Storage Disease , J Biol Chem 199:661-667 ( (Dec) ) 1952. 2. Harris, R.C., and Olmo, C.: Liver and Kidney Glucose-6-Phosphatase Activity in Children With Normal and Diseased Organs , J Clin Invest 33: 1204-1209 ( (Sept) ) 1954.Crossref 3. Fields, J.B.; Ebstein, S.; and Egan, T.: Studies in Glycogen Storage Disease: I. Intestinal Glucose-6-Phosphatase Activity in Patients With Von Gierke's Disease and Their Parents , J Clin Invest 44:1240-1247 ( (July) ) 1965.Crossref 4. Fine, R.N.; Strauss, J.; and Donnell, G.N.: Hyperuricemia in Glycogen-Storage Disease Type 1 , Amer J Dis Child 112:572-576 ( (Dec) ) 1966.Crossref 5. Jakovcic, S.; Khachadurian, A.; and Hsia, D.Y.: The Hyperlipidemia in Glycogen Storage Disease , J Lab Clin Med 68:769-779 ( (Nov) ) 1966. 6. Barker, S.B.; Humphrey, M.J.; and Saley, M.H.: The Clinical Determination of Protein-Bound Iodine , J Clin Invest 30:55-62 ( (Jan) ) 1951.Crossref 7. Bradbury, S.T.; Brown, E.; and Brown, W.E.: Absorption of Urinary Gonadotropins on Koolin , Proc Soc Exper Biol Med 71:228-232 ( (June) ) 1949.Crossref 8. Brown, J.B.; Bulbrook, R.D.; and Greenwood, F.C.: Additional Purification Step for Method of Estimating Oestroil, Oestrone and Oestradial-17 Beta in Human Urine , J Endocr 16:49-56 ( (Nov) ) 1957.Crossref 9. Callow, N.H.; Callow, R.K.; and Emmens, C.W.: Colorimetric Determination of Substances Containing Grouping—CH2CO—in Urine Extracts as Indication of Androgen Content , Biochem J 32: 1312-1331 ( (Aug) ) 1938. 10. Rutherford, E.R., and Nelson, D.H.: Determination of Urinary 17-Ketogenic Steroids by Means of Sodium Metaperiodate Oxidation , J Clin Endocr 23:533-538 ( (June) ) 1963.Crossref 11. Saifer, A., and Gerstenfeld, S.: The Photometric Microdetermination of Blood Glucose With Glucase Oxidase , J Lab Clin Med 51:448-460 ( (March) ) 1958. 12. Barker, S.B., and Summerson, W.H.: The Colorimetric Determination of Lactic Acid in Biological Material , J Biol Chem 138:535-554 ( (April) ) 1941. 13. Dole, V.P., and Meinertz, H.: Microdetermina- tion of Long-Chain Fatty Acids in Plasma and Tissues , J Biol Chem 235:2595-2599 ( (Sept) ) 1960. 14. Morgan, C.R., and Lazarow, A.: Immunoassay of Insulin: Two Anti-body Systems , Diabetes 12: 115-126 ( (March) -April) 1963. 15. Glick, S.M., et al: Immunoassay of Human Growth Hormone on Plasma , Nature 199:784-787 ( (Aug 24) ) 1963.Crossref 16. Frasier, S.D.: The Serum Growth Hormone Response to Hypoglycemia in Dwarfism , J Pediat 71:625-638 ( (Nov) ) 1967.Crossref 17. Field, R.A.: "Glycogen Deposition Diseases," in Stanbury, J.B.; Wyngaarden, J.B.; and Frederickson, D.S. (eds.): The Metabolic Basis of Inherited Diseases , ed 2, New York: McGraw-Hill Book Co., 1966, p 158. 18. Brandte, G.; Kayser, K.; and Ockerman, P.A.: Glycogenosis Type 1 in Four Siblings , Acta Paediat (suppl) 157, pp 1-28, 1964. 19. Holling, H.E.: Gout and Glycogen Storage Disease , Ann Intern Med 58:654-663 ( (April) ) 1963.Crossref 20. Alepa, F.P., et al: Relationships Between Glycogen Storage Disease and Tophaceous Gout , Amer J Med 42:58-66 ( (Jan) ) 1967.Crossref 21. Roth, J., et al: Hypoglycemia: A Patent Stimulus to Secretion of Growth Hormone , Science 140: 987-988 ( (May 31) ) 1963.Crossref 22. Merimee, T.J.; Lillicrap, D.A.; and Rabinowitz, D.: Effect of Arginine on Serum Levels of Human Growth Hormone , Lancet 2:668-670 ( (Oct 2) ) 1965.Crossref 23. Roth, J., et al: Secretion of Human Growth Hormone: Physiologic and Experimental Modification , Metabolism 12:577-579 ( (July) ) 1963. 24. Frantz, A.G., and Rabkin, T.M.: Effects of Estrogen and Sex Difference on Secretion of Human Growth Hormone , J Clin Endocr 25:1470-1480 ( (Nov) ) 1965.Crossref 25. Merimee, T.J.; Burgess, J.A.; and Rabinowitz, D.: Sex Determined Variation in Serum Insulin and Growth Hormone Response to Aminoacid Stimulus , J Clin Endocr 26:791-793 ( (July) ) 1966.Crossref 26. West, C.D., and Smith, W.C.: An Attempt to Elucidate the Cause of Growth Retardation in Renal Disease , Amer J Dis Child 91:460-476 ( (May) ) 1956. 27. Kipnis, D.M., and Stein, M.F.: Insulin Antagonism: Fundamental Considerations , Ciba Colloquia on Endocrinology 15:156-191 1965. 28. Weber, G., et al: Feedback Inhibition of Key Glycolytic Enzymes in Liver: Action of Free Fatty Acids , Science 154:1352-1360 ( (Dec 9) ) 1966.Crossref 29. Kostyo, J.L.; Hotchkiss, J.; and Knobil, E.: Stimulation of Amino Acid Transport in Isolated Diaphragm by Growth Hormone Added In Vitro , Science 130:1653-1654 ( (Dec 11) ) 1959.Crossref 30. Kostyo, J.L., and Knobil, E.: The Effect of Growth Hormone on the In Vitro Incorporation of Leucine-2-C14 in the Protein of Rat Diaphragm , Endocrinology 65:395-401 ( (Sept) ) 1959.Crossref 31. Riddell, A.G.; Davies, R.P.; and Clark, A.D.: Portacaval Transposition in the Treatment of Glycogen Storage Disease , Lancet 2:1146-1148 ( (Nov 26) ) 1966.Crossref 32. Marchioro, T.L., et al: The Effect of Partial Transposition on the Canine Liver , Surgery 61: 723-732 ( (May) ) 1967.

Journal

American Journal of Diseases of ChildrenAmerican Medical Association

Published: Feb 1, 1969

References