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Etiologic Factors in Mental Deficiency: Errors of Metabolism That May Lead to Mental Deficiency

Etiologic Factors in Mental Deficiency: Errors of Metabolism That May Lead to Mental Deficiency Abstract Introduction In certain mental deficiencies an association has been established between the mental defect and a genetically determined biochemical abnormality. For instance, in the phenylketonuric person there is a specific biochemical defect, with the mode of inheritance well known; in others, e. g., the Mongoloid patient, a biochemical defect may be present and the question of inheritance is still debated. Though patients with known biochemical defects constitute only a small portion of all the mental defectives, the number of specific syndromes identified is increasing as the result of continuing research. This rapidly expanding knowledge warrants a summary, with a hope that it will stimulate clinical search for additional patients and entities.In those conditions where the biochemical abnormality is well understood, the basic mechanism is a genetically determined defect in enzyme function, which manifests itself in deviant metabolism of a specific nutrient or substrate. Our classification is in accordance with References 1. Symposium on Inborn Errors of Metabolism , Am. J. Med. 22:671, 1957.Crossref 2. Childs, B.: Genetics in Pediatric Disease , Am. J. M. Sc. 228:680, 1954.Crossref 3. Jervis, G. A.: Phenylpyruvic Oligophrenia (Phenylketonuria) , A. Res. Nerv. & Ment. Dis., Proc. 33:259, 1954. 4. Wright, S. W., and Tarjan, G.: Phenylketonuria , A. M. A. J. Dis. Child. 93:405, 1957. 5. Low, N. L.; Bosma, J. F., and Armstrong, M. D.: Studies on Phenylketonuria: VI. EEG Studies in Phenylketonuria , A. M. A. Arch. Neurol. & Psychiat. 77:359, 1957. 6. Jervis, G. A.: Genetics of Phenylpyruvic Oligophrenia , J. Ment. Sc. 85:719, 1939. 7. Hsia, D. Y. Y.; Driscoll, K. W.; Troll, W., and Knox, W. E.: Detection by Phenylalanine Tolerance Tests of Heterozygous Carriers of Phenylketonuria , Nature, London 178:1239, 1956. 8. Alvord, E. C., Jr.; Stevenson, L. D.; Vogel, F. S., and Engle, R. L., Jr.: Neuropathological Findings in Phenylpyruvic Oligophrenia (Phenylketonuria) , J. Neuropath. & Exper. Neurol. 9:298, 1950. 9. Armstrong, M. D.; Shaw, K. N. F., and Robinson, K. S.: Studies on Phenylketonuria: II. The Excretion of Ortho-Hydroxyphenylacetic Acid in Phenylketonuria , J. Biol. Chem. 213:797, 1955. 10. Dancis, J., and Balis, M. E.: A Possible Mechanism for Disturbance in Tyrosine Metabolism in Phenylpyruvic Oligophrenia , Pediatrics 15:63, 1955. 11. Jervis, G. A.: Phenylpyruvic Oligophrenia: Deficiency of Phenylalanine-Oxidizing System , Proc. Soc. Exper. Biol. & Med. 82:514, 1953. 12. Wallace, H. W.; Moldaue, K., and Meister, A.: Studies on Conversion of Phenylalanine to Tyrosine in Phenylpyruvic Oligophrenia , Proc. Soc. Exper. Biol. & Med. 94:632, 1957. 13. Mitoma, C.; Auld, R. M., and Udenfriend, S.: On the Nature of the Enzymatic Defect in Phenylpyruvic Oligophrenia , Proc. Soc. Exper. Biol. & Med. 94:634, 1957. 14. Bickel, H.; Gerrard, J., and Hickmans, E. M.: Influences of Phenylalanine Intake on Chemistry and Behavior of Phenylketonuric Child , Acta pædiat. 43:64, 1954. 15. Armstrong, M. D., and Tyler, F. H.: Studies on Phenylketonuria: I. Restricted Phenylalanine Intake in Phenylketonuria , J. Clin. Invest. 34: 565, 1955. 16. Horner, F. A., and Streamer, C. W.: Effect of a Phenylalanine-Restricted Diet on Patients with Phenylketonuria: Clinical Observations in 3 Cases , J. A. M. A. 161:1628, 1956. 17. Armstrong, M. D., and Binkley, E. L., Jr.: Studies on Phenylketonuria: V. Observations on a Newborn Infant with Phenylketonuria , Proc. Soc. Exper. Biol. & Med. 93:418, 1956. 18. Meister, A.; Udenfriend, S., and Bessman, S. P.: Diminished Phenylketonuria in Phenylpyruvic Oligophrenia After Administration of L-Glutamine, L-Glutamate, and L-Asparagine , J. Clin. Invest. 35:619, 1956. 19. Armstrong, M. D., and Low, N. L.: Phenylketonuria: VIII. Relation Between Age, Serum Phenylalanine Level, and Phenylpyruvic Acid Excretion , Proc. Soc. Exper. Biol. & Med. 94:142, 1957. 20. Knox, W. E., and Hsia, D. Y. Y.: Pathogenetic Problems in Phenylketonuria , Am. J. Med. 22:687, 1957. 21. Baron, D. N.; Dent, C. E.; Harris, H.; Hart, E. W., and Jepson, J. B.: Hereditary Pellagra-like Skin Rash with Temporary Cerebellar Ataxia, Constant Renal Amino-Aciduria, and Other Bizarre Biochemical Features , Lancet 2:421, 1956.Crossref 22. Hersov, L. A.: A Case of Childhood Pellagra with Psychosis , J. Ment. Sc. 101:878, 1955. 23. Bearn, A. G.: Wilson's Disease: An Inborn Error of Metabolism with Multiple Manifestations , Am. J. 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Sc. 215:599, 1948. 30. Denny-Brown, D., and Porter, H.: The Effect of BAL (2-3 Dimercaptopropanol) in Hepatolenticular Degeneration (Wilson's Disease) , New England J. Med 245:917, 1951. 31. Walshe, J. M.: Penicillamine, a New Oral Therapy for Wilson's Disease , Am. J. Med. 21: 487, 1956. 32. Uzman, L. L.; Iber, F. L.; Chalmers, T. C., and Knowlton, M.: The Mechanism of Copper Deposition in the Liver in Hepatolenticular Degeneration (Wilson's Disease) , Am. J. M. Sc. 231:511, 1956. 33. Townsend, E. H.; Mason, H. H., and Strong, P. S.: Galactosemia and Its Relation to Laennec's Cirrhosis: Review of Literature and Presentation of 6 Additional Cases , Pediatrics 7:760, 1951. 34. Donnell, G. N., and Lann, S. H.: Galactosemia: Report of 4 Cases , Pediatrics 7:503, 1951. 35. Bell, L. S.; Blair, W. C.; Lindsay, S., and Watson, S. J.: Galactose Diabetes (Galactosemia): Clinicopathologic Study of 2 Siblings , J. Pediat. 36:427, 1950. 36. Holzel, A.; Komrower, G. 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D., and Bailey, C. C.: Use of Mesoxalyl Urea (Alloxan) in Treatment of an Infant with Convulsions Due to Idiopathic Hypoglycemia , Pediatrics 1:337, 1948. 50. Moncrieff, A., and Wilkinson, R. H.: Sucrosuria with Mental Defect and Hiatus Hernia , Acta pædiat. 43 ( (Supp. 100) ) :495, 1954.Crossref 51. Owen, J. A., and Lewis, I. C.: Sucrosuria in Children , Scottish M. J. 1:231, 1956. 52. Reilly, W. A., and Lindsay, S.: Gargoylism (Lipochondrodystrophy): A Review of Clinical Observations in 18 Cases , Am. J. Dis. Child 75: 595, 1948.Crossref 53. McKusick, V. A.: Heritable Disorders of Connective Tissue , St. Louis, The C. V. Mosby Company, 1956. 54. Caffey, J.: Gargoylism: Prenatal and Neonatal Bone Lesions and Their Early Postnatal Development , Am. J. Roentgenol. 67:715, 1952. 55. Lindsay, S.: The Cardiovascular System in Gargoylism , Brit. Heart J. 12:17, 1950.Crossref 56. Jervis, G. A.: Gargoylism: A Study of 10 Cases with Emphasis on the Formes Frustes of the Disease , Arch. 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Fog, T., and Munkvad, I.: The So-Called Lipoidoses: Their Histopathology and Chemistry with Special Reference to a Case of Amaurotic Idiocy , Acta psychiat. et neurol. scandinav. 30:197, 1955. 77. Teglbjaerg, H. D. S., and Plum, C. M.: Vacuolized Lymphocytes in Lipoidoses , Acta psychiat. et neurol. scandinav. 30:327, 1955. 78. Thannhauser, S. J.: Lipoidoses: Diseases of the Cellular Lipid Metabolism , New York, Oxford University Press, 1940. 79. Thannhauser, S. J., and Schmidt, G.: Lipids and Lipoidoses , Physiol. Rev. 26:275, 1946. 80. Menten, M. L., and Welton, J. P.: Lipid Analysis in a Case of Niemann-Pick Disease , Am. J. Dis. Child. 72:720, 1946. 81. Rodgers, C. L., and Jackson, S. H.: Acute Infantile Gaucher's Disease , Pediatrics 7:53, 1951. 82. Barlow, C. F.: Neuropathological Findings in a Case of Infantile Gaucher's Disease , J. Neuropath. & Exper. Neurol. 16:239, 1957. 83. Groen, J.: The Hereditary Mechanism of Gaucher's Disease , Blood 3:1238, 1948. 84. Uzman, L. L.: The Lipoprotein of Gaucher's Disease , Arch. Path. 51:329, 1951. 85. McGirr, E. M., and Hutchison, J. H.: Dysgenesis of the Thyroid Gland as a Cause of Cretinism and Juvenile Myxedema , J. Clin. Endocrinol. 15:668, 1955. 86. Childs, B., and Gardner, L. I.: Etiologic Factors in Sporadic Cretinism: An Analysis of 90 Cases , Ann. Human Genet. 19:90, 1954. 87. Ainger, L. E., and Kelley, V. C.: Familial Athyreotic Cretinism: Report of 3 Cases , J. Clin. Endocrinol. 15:469, 1955.Crossref 88. Stanbury, J. M., and McGirr, E. M.: Sporadic or Non-Endemic Familial Cretinism with Goiter , Am. J. Med. 22:712, 1957.Crossref 89. McGirr, E. M., and Hutchison, J. H.: Radioactive and Iodine Studies in Non-Endemic Goitrous Cretinism , Lancet 1:1117, 1953.Crossref 90. Conference on Thyroid and Iodine Metabolism, No. 20, Pittsburgh, Ross Laboratories, 1956. 91. Wilkins, L.; Clayton, G. 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Etiologic Factors in Mental Deficiency: Errors of Metabolism That May Lead to Mental Deficiency

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American Medical Association
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Copyright © 1958 American Medical Association. All Rights Reserved.
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0096-6916
DOI
10.1001/archpedi.1958.02060050545013
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Abstract

Abstract Introduction In certain mental deficiencies an association has been established between the mental defect and a genetically determined biochemical abnormality. For instance, in the phenylketonuric person there is a specific biochemical defect, with the mode of inheritance well known; in others, e. g., the Mongoloid patient, a biochemical defect may be present and the question of inheritance is still debated. Though patients with known biochemical defects constitute only a small portion of all the mental defectives, the number of specific syndromes identified is increasing as the result of continuing research. This rapidly expanding knowledge warrants a summary, with a hope that it will stimulate clinical search for additional patients and entities.In those conditions where the biochemical abnormality is well understood, the basic mechanism is a genetically determined defect in enzyme function, which manifests itself in deviant metabolism of a specific nutrient or substrate. Our classification is in accordance with References 1. Symposium on Inborn Errors of Metabolism , Am. J. Med. 22:671, 1957.Crossref 2. Childs, B.: Genetics in Pediatric Disease , Am. J. M. Sc. 228:680, 1954.Crossref 3. Jervis, G. A.: Phenylpyruvic Oligophrenia (Phenylketonuria) , A. Res. Nerv. & Ment. Dis., Proc. 33:259, 1954. 4. Wright, S. W., and Tarjan, G.: Phenylketonuria , A. M. A. J. Dis. Child. 93:405, 1957. 5. Low, N. L.; Bosma, J. F., and Armstrong, M. D.: Studies on Phenylketonuria: VI. EEG Studies in Phenylketonuria , A. M. A. Arch. Neurol. & Psychiat. 77:359, 1957. 6. Jervis, G. A.: Genetics of Phenylpyruvic Oligophrenia , J. Ment. Sc. 85:719, 1939. 7. Hsia, D. Y. Y.; Driscoll, K. W.; Troll, W., and Knox, W. E.: Detection by Phenylalanine Tolerance Tests of Heterozygous Carriers of Phenylketonuria , Nature, London 178:1239, 1956. 8. Alvord, E. C., Jr.; Stevenson, L. D.; Vogel, F. S., and Engle, R. L., Jr.: Neuropathological Findings in Phenylpyruvic Oligophrenia (Phenylketonuria) , J. Neuropath. & Exper. Neurol. 9:298, 1950. 9. Armstrong, M. D.; Shaw, K. N. F., and Robinson, K. S.: Studies on Phenylketonuria: II. The Excretion of Ortho-Hydroxyphenylacetic Acid in Phenylketonuria , J. Biol. Chem. 213:797, 1955. 10. Dancis, J., and Balis, M. E.: A Possible Mechanism for Disturbance in Tyrosine Metabolism in Phenylpyruvic Oligophrenia , Pediatrics 15:63, 1955. 11. Jervis, G. A.: Phenylpyruvic Oligophrenia: Deficiency of Phenylalanine-Oxidizing System , Proc. Soc. Exper. Biol. & Med. 82:514, 1953. 12. Wallace, H. W.; Moldaue, K., and Meister, A.: Studies on Conversion of Phenylalanine to Tyrosine in Phenylpyruvic Oligophrenia , Proc. Soc. Exper. Biol. & Med. 94:632, 1957. 13. Mitoma, C.; Auld, R. M., and Udenfriend, S.: On the Nature of the Enzymatic Defect in Phenylpyruvic Oligophrenia , Proc. Soc. Exper. Biol. & Med. 94:634, 1957. 14. Bickel, H.; Gerrard, J., and Hickmans, E. M.: Influences of Phenylalanine Intake on Chemistry and Behavior of Phenylketonuric Child , Acta pædiat. 43:64, 1954. 15. Armstrong, M. D., and Tyler, F. H.: Studies on Phenylketonuria: I. Restricted Phenylalanine Intake in Phenylketonuria , J. Clin. Invest. 34: 565, 1955. 16. Horner, F. A., and Streamer, C. W.: Effect of a Phenylalanine-Restricted Diet on Patients with Phenylketonuria: Clinical Observations in 3 Cases , J. A. M. A. 161:1628, 1956. 17. Armstrong, M. D., and Binkley, E. L., Jr.: Studies on Phenylketonuria: V. Observations on a Newborn Infant with Phenylketonuria , Proc. Soc. Exper. Biol. & Med. 93:418, 1956. 18. Meister, A.; Udenfriend, S., and Bessman, S. P.: Diminished Phenylketonuria in Phenylpyruvic Oligophrenia After Administration of L-Glutamine, L-Glutamate, and L-Asparagine , J. Clin. Invest. 35:619, 1956. 19. Armstrong, M. D., and Low, N. L.: Phenylketonuria: VIII. Relation Between Age, Serum Phenylalanine Level, and Phenylpyruvic Acid Excretion , Proc. Soc. Exper. Biol. & Med. 94:142, 1957. 20. Knox, W. E., and Hsia, D. Y. Y.: Pathogenetic Problems in Phenylketonuria , Am. J. Med. 22:687, 1957. 21. Baron, D. N.; Dent, C. E.; Harris, H.; Hart, E. W., and Jepson, J. B.: Hereditary Pellagra-like Skin Rash with Temporary Cerebellar Ataxia, Constant Renal Amino-Aciduria, and Other Bizarre Biochemical Features , Lancet 2:421, 1956.Crossref 22. Hersov, L. A.: A Case of Childhood Pellagra with Psychosis , J. Ment. Sc. 101:878, 1955. 23. Bearn, A. G.: Wilson's Disease: An Inborn Error of Metabolism with Multiple Manifestations , Am. J. Med. 22:747, 1957.Crossref 24. Glazebrook, A. J.: Wilson's Disease , Edinburgh M. J. 52:83, 1945. 25. Cartwright, G. E.; Hodges, R. E.; Gubler, C. J.; Mahoney, J. P.; Daum, K.; Wintrobe, M. M., and Bean, W. B.: Studies on Copper Metabolism: XIII. Hepatolenticular Degeneration , J. Clin. Invest. 33:1487, 1954.Crossref 26. Scheinberg, I. H., and Gitlin, D.: Deficiency of Ceruloplasmin in Patients with Hepatolenticular Degeneration (Wilson's Disease) , Science 116:484, 1952.Crossref 27. Bearn, A. G., and Kunkel, H. G.: Localization of Cu 64 in Serum Fractions Following Oral Administration: An Alteration in Wilson's Disease , Proc. Soc. Exper. Biol. & Med. 85:44, 1954. 28. Mahoney, J. P.; Sandberg, A. A.; Gubler, C. J.; Cartwright, G. E., and Wintrobe, M. M.: Uric Acid Metabolism in Hepatolenticular Degeneration , Proc. Soc. Exper. Biol. & Med. 88:427, 1955. 29. Uzman, L. L., and Denny-Brown, D.: Amino-Aciduria in Hepatolenticular Degeneration (Wilson's Disease) , Am. J. M. Sc. 215:599, 1948. 30. Denny-Brown, D., and Porter, H.: The Effect of BAL (2-3 Dimercaptopropanol) in Hepatolenticular Degeneration (Wilson's Disease) , New England J. Med 245:917, 1951. 31. Walshe, J. M.: Penicillamine, a New Oral Therapy for Wilson's Disease , Am. J. Med. 21: 487, 1956. 32. Uzman, L. L.; Iber, F. L.; Chalmers, T. C., and Knowlton, M.: The Mechanism of Copper Deposition in the Liver in Hepatolenticular Degeneration (Wilson's Disease) , Am. J. M. Sc. 231:511, 1956. 33. Townsend, E. H.; Mason, H. H., and Strong, P. S.: Galactosemia and Its Relation to Laennec's Cirrhosis: Review of Literature and Presentation of 6 Additional Cases , Pediatrics 7:760, 1951. 34. Donnell, G. N., and Lann, S. H.: Galactosemia: Report of 4 Cases , Pediatrics 7:503, 1951. 35. Bell, L. S.; Blair, W. C.; Lindsay, S., and Watson, S. J.: Galactose Diabetes (Galactosemia): Clinicopathologic Study of 2 Siblings , J. Pediat. 36:427, 1950. 36. Holzel, A.; Komrower, G. M., and Schwarz, V.: Galactosemia , Am. J. Med. 22:703, 1957. 37. Wright, S. W.; Ulstrom, R. A., and Szewczak, J. T.: Studies on Carbohydrates in Body Fluids: I. Identification by Means of Paper Chromatography , A. M. A. J. Dis. Child. 93:173, 1957. 38. Cusworth, D. C.; Dent, C. E., and Flynn, F. V.: Amino-Aciduria in Galactosemia , Arch. Dis. Childhood 30:150, 1955. 39. Schwarz, V.; Golberg, L.; Komrower, G. M., and Holzel, A.: Some Disturbances of Erythrocyte Metabolism in Galactosemia , Biochem. J. 62:34, 1956. 40. Kalckar, H. M.; Anderson, E. P., and Isselbacher, K. J.: Galactosemia, a Congenital Defect in a Nucleotide Transferase , Biochim. et biophys. acta 20:262, 1956. 41. Kalckar, H. M.: Biochemical Mutations in Man and Micro-Organisms , Science 125:105, 1957.Crossref 42. Anderson, E. P.; Kalckar, H. M., and Isselbacher, K. J.: Defect in Uptake of Galactose-1-Phosphate into Liver Nucleotides in Congenital Galactosemia , Science 125:113, 1957.Crossref 43. Isselbacher, K. J.: Evidence for an Accessory Pathway of Galactose Metabolism in Man , read before the American Society for Clinical Investigation, Atlantic City, N. J., (May) 6, 1957. 44. Sidbury, J. B., Jr.: The Enzymatic Lesions in Galactosemia , read before the American Society for Clinical Investigation, Atlantic City, N. J., (May) 6, 1957. 45. 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Study of Pathologic Lesions and Clinical Review of 12 Cases , Am. J. Dis. Child. 76:239, 1948. 60. Henderson, J. L.; MacGregor, A. R.; Thannhauser, S. J., and Holden, R.: Pathology and Biochemistry of Gargoylism: Report of 3 Cases with Review of Literature , Arch. Dis. Childhood 27:230, 1952. 61. Cordes, F. C., and Hogan, M. J.: Dysostosis Multiplex (Hurler's Disease; Lipochondrodystrophy; Gargoylism): Report of the Ocular Findings in 5 Cases, with a Review of the Literature , Arch. Ophth. 27:637, 1942. 62. Dawson, I. M.: The Histology and Histochemistry of Gargoylism , J. Path. & Bact. 67:587, 1954. 63. Reilly, W. A.: The Granules in the Leukocytes in Gargoylism , Am. J. Dis. Child. 62:489, 1941. 64. Jervis, G. A.: Familial Mental Deficiency Akin to Amaurotic Idiocy and Gargoylism , Arch. Neurol. & Psychiat. 47:943, 1942. 65. Brante, G.: Gargoylism: A Mucopolysaccharidosis , Scandinav. J. Clin. & Lab. Invest. 4: 43, 1952. 66. Uzman, L. L.: Chemical Nature of the Storage Substance in Gargoylism: Hurler-Pfaundler's Disease , A. M. A. Arch. Path. 60:308, 1955. 67. Lorincz, A. E., and Dorfman, A.: Occurrence of Urinary Acid Mucopolysaccharides in the Hurler Syndrome, read by title before the Society for Pediatric Research, Carmel, Calif. June, 1957. 68. Baar, H. S., and Hickmans, E. M.: Cephalin Lipoidoses: A New Disorder of Lipoid Metabolism , Acta med. scandinav. 155:49, 1956. 69. Farber, S.: A Lipid Metabolic Disorder—Disseminated "Lipogranulomatosis"—A Syndrome with Similarity to, and Important Difference from, Niemann-Pick and Hand-Schüller-Christian Disease , A. M. A. Am. J. Dis. Child. 84:499, 1952. 70. Landing, B. H., and Frieman, D. G.: Histochemical Studies in the Cerebral Lipoidoses and Other Cellular Metabolic Disorders , Am. J. Path. 33:1, 1957. 71. van Creveld, S.: The Lipoidoses , Advances Pediat. 6:190, 1953. 72. Kozinn, P. J.; Wiener, H., and Cohen, P.: Infantile Amaurotic Idiocy: A Genetic Approach , J. Pediat. 51:58, 1957. 73. Klenk, E.: The Pathological Chemistry of the Developing Brain , in Biochemistry of the Developing Nervous System , edited by H. Waelsch, New York, Academic Press, Inc., 1955. 74. Saifer, A.; Aronson, S.; Zymaris, M. C., and Volk, B. W.: Serial Biochemistry of Serum and Cerebrospinal Fluid in Amaurotic Family Idiocy (Tay-Sach's Disease) , Proc. Soc. Exper. Biol. & Med. 91:394, 1956. 75. Volk, B. W.; Aronson, S. M., and Saifer, A.: The Serum Neuraminic Acid Distribution: II. Clinical Studies with Special Reference to Amaurotic Family Idiocy (Tay-Sachs Disease) , J. Lab. & Clin. Med. 50:26, 1957. 76. Fog, T., and Munkvad, I.: The So-Called Lipoidoses: Their Histopathology and Chemistry with Special Reference to a Case of Amaurotic Idiocy , Acta psychiat. et neurol. scandinav. 30:197, 1955. 77. Teglbjaerg, H. D. S., and Plum, C. M.: Vacuolized Lymphocytes in Lipoidoses , Acta psychiat. et neurol. scandinav. 30:327, 1955. 78. Thannhauser, S. J.: Lipoidoses: Diseases of the Cellular Lipid Metabolism , New York, Oxford University Press, 1940. 79. Thannhauser, S. J., and Schmidt, G.: Lipids and Lipoidoses , Physiol. Rev. 26:275, 1946. 80. Menten, M. L., and Welton, J. P.: Lipid Analysis in a Case of Niemann-Pick Disease , Am. J. Dis. Child. 72:720, 1946. 81. Rodgers, C. L., and Jackson, S. H.: Acute Infantile Gaucher's Disease , Pediatrics 7:53, 1951. 82. Barlow, C. F.: Neuropathological Findings in a Case of Infantile Gaucher's Disease , J. Neuropath. & Exper. Neurol. 16:239, 1957. 83. Groen, J.: The Hereditary Mechanism of Gaucher's Disease , Blood 3:1238, 1948. 84. Uzman, L. L.: The Lipoprotein of Gaucher's Disease , Arch. Path. 51:329, 1951. 85. McGirr, E. M., and Hutchison, J. H.: Dysgenesis of the Thyroid Gland as a Cause of Cretinism and Juvenile Myxedema , J. Clin. Endocrinol. 15:668, 1955. 86. 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Journal

A.M.A. Journal of Diseases of Children – American Medical Association

Published: May 1, 1958

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