書籍詳細

1. 代謝疾患における分子異常の意義

P.8 掲載の参考文献

• 1) Fujii, H., Miwa, S. and Suzuki, K.:Purification and properties of adenosine deaminase in normal and hereditary hemolytic anemia with increased red cell activity. Hemoglobin, 4:693-705, 1980.
  pubmed

• 1) Beutler, E.:Hemolytic Anemia in Disorders of Red Cell Metabolism. Plenum Medical Book Co., New York, 1978.

• 1) 藤井寿一, 三輪史朗, 吉田昭:分子病としての赤血球酵素異常症. 日本血液学会雑誌, 43:1196-1202, 1980.

• 1) 山村雄一:分子病とは. In 内科セミナーMET 1, 分子病 I. 永井書店, 大阪, 1980.

• 2) 山村雄一編:代謝異常. In 岩波講座現代生物科学16. 岩波書店, 東京, 1975.

• 2) Fujii, H., Chen, S-H., Akatsuka, J., Miwa, S. and Yoshida, A.:Use of cultured lymphoblastoid cells for the study of abnormal enzymes:Molecular abnormality of a phosphoglycerate kinase variant associated with hemolytic anemia. Proc. Natl. Acad. Sci. USA, 78:2587-2590, 1981.

• 2) Miwa, S.:Pyruvate kinase and other enzymopathies of the Embden-Meyerhof pathway. Clinics in Haemat., 10:57-80, 1981.

• 3) 三輪史朗:遺伝性溶血性貧血, C, 赤血球酵素異常による遺伝性溶血性貧血. In 新版日本血液学全書 4, 貧血 II. 丸善, 東京, 1980.

• 3) Nyhan, W. L:先天性代謝異常症. In 井上英二編, 遺伝学と医学 I. 井立出版, 東京, 1979.

2. アミノ酸代謝異常

P.25 掲載の参考文献

• 1) Munro, H. N.:Free amino acid pools and their role in regulation. In Munro, H. N., ed., Mammalian Protein Metabolism. Vol. IV, pp. 299-387, Academic Press, New York, 1970.

• 2) Breuer, J, and Kowalewski, S.:Aminosauren. pp. 5-13, Georg Thieme, Stuttgart, 1981.

• 3) Scriver, C. R.:The human biochemical genetics of amino acid transport. Pediatrcs 44:348-357, 1969.

• 4) Nance and Nance, cited from Scriver, C. R., and Rosenberg, L. E., ed.:Amino Acid Metabolism and its Disorders. p. 41, W. B. Saunders, Philadelphia, 1973.

• 5) 滝田斉:小児の肝障害によるアミノ酸代謝異常とその背景. 小児科臨床, 27:1, 366-1, 374. 1974.

• 6) Armstrong, M. D., and Stawe, U.:A study of plasma free amino acid levels. I. Study of factors affecting validity of amino acid analyses. Metabolism 22:1549-560, 1973.

• 7) Armstrong, M. D., and Stawe, U.:A study of plasma free amino acid levels. II. Normal values for children and adults. Metabolism 22:561-569, 1973.

• 8) Armstrong, M, D., and Stawe, U.:A study of plasma free amino acid levels. III. Variations during growth and aging. Metabolism 22:571-578, 1973.

• 9) Feigin, R. D., and Haymond, M. W.:Circadian periodicity of blood amino acids in the neonate. Pediatrics 45:782-791, 1970.
  pubmed

• 10) Gan, J. C., and Jeffay, H.:Origins and metabolism of the intracellular amino acid pools in rat liver and muscle. Biochim. Biophys. Acta 148:448-459, 1967.
  pubmed

• 11) Elwyn, D. H., Launder, W. J., Parikh, H. C., and Wise, E. M., Jr.:Roles of plasma and erythrocytes in interorgan transport of amino acids in dogs. Amer. J. Physiol. 222:1333-1342, 1972.
  pubmed

• 12) Aoki, T. T., Brennan, M. F., Muller, W. A., Moore, F. D., and Cahill, G. F., Jr.:Effect of insulin on muscle glutamate uptake;whole blood versus plasma glutamate analysis. J. Clin. Invest. 51:2889-2894, 1972.

• 13) Sturman, J., Gaull, G., and Raiha, N. C. R.:Absence of cystathionase in human fetal liver;is cystine essential?. Science 169:74-76, 1970.

• 14) Gaull, G. E., Raiha, N. C. R., Saarikoski, S., and Sturman, J. A.:Transfer of methionine and cyst(e)ine across the human placente and the role of cyst(e)ine in fetal growth. Pediat. Res. 6:336-376, 1972.

• 15) Armstrong, M. D., and Yates, K. N.:Free amino acids in milk. Proc. Soc. exp. Biol. Med 113:680-683, 1963.

• 16) Komrower, G. M., and robins, A. J.:Plasma amino acid disturbance in infancy. I. Hypermethioninaemia and transient tyrosinaemia. Arch. Dis. Child. 44:416-421, 1969.

• 17) Levy, H. L., Shih, V. E., Madigan, P. M., Karolkewicz, Y., Carr, J. R., Lum, A., Richards, A. A., Crawford, J. D., and MacCready, R. A.:Hypermethinemia with other hyperaminoacidemias. Studies in infants on high protein diets. Amer. J. Dis. Child. 117:96-103, 1969.

• 18) Friedman, P. A., and Kaufman, S.:A study of the development of phenylalanine hydroxylase in fetuses of several mammalian species. Arch. Biochem. Biophys. 146:321-326, 1971.

• 19) Synderman, S. E.:The protein and amino acid requirements of the premature infant. In Jonxis, J. H. P., et al. ed.:Metabolic processes in the Fetus and Newborn Infant, pp. 128-143, Stenfert Kroese, Leiden, 1971.

• 20) Menkes, J. H., Welcher, D. W., Levi, H. S., Dallas, J., and Gretsky, N. E.:Relationship of elevated blood tyrosine to the ultimate intellectual performance of premature infants. Pediatrics 49:218-224, 1972.

• 21) Brodehl, J., and Bickel, H.:Aminoaciduria and hyperaminoaciduria in childhood. Clin. Nephrol. 1:149-168, 1973.
  pubmed

P.56 掲載の参考文献

• 1) 多田啓也:アミノ酸代謝異常. p. 40, 東京医学社, 1976.

• 2) 多田啓也:大浦敏明, 北川照男, 松田一郎, 川村正彦, 和田義郎先天性代謝異常症の治療指針-新生児マス・スクリーニングの対象疾患. 日児誌, 81:840, 1977.

• 3) 多田啓也:Maternal PKU, 小児科, 17:173, 1976.

• 4) Lenke, R. R. & Levy, H. L. Maternal phenylketonuria and hyperphenylalaninemia:An international survey of the outcome of untreated and treated pregnancies. New Eng. J. Med., 303:1202, 1980.
  pubmed

• 5) 多田啓也:悪性高フェニルアラニン血症. 医学のあゆみ, 109:548, 1979.

• 6) 酒井潔, 北川照男:An atypical case of tyrosinemia. Jikei Med. J. 4:1, 1957.

• 7) Komrower, G. M. et al.:Hydroxykynureninuria. Arch. Dis. Child., 39:250, 1964.
  pubmed

• 8) 多田啓也ら:Congenital tryptophanuria with dwarfism. Tohoku J. exp. Med., 80:118, 1963.

• 9) 和田義郎ら:Hypervalinemia. Tohoku J. exp. Med., 81:46, 1963.

• 10) Tanaka, K. et al.:Isovaleric acidemia. A new genetic defect of leucine metabolism. Proc. Nat. Acad. Sci., 56:236, 1966.
  pubmed

• 11) Ghadimi, H, et al.:A familial disturbance of histidine metabolism. New Eng. J. Med., 265:221, 1961.
  pubmed

• 12) Carson, N. A. J. & Neil, D. W. Metabolic abnormalities detected in a survey of mentally backward individuals in Northern Ireland. Arch. Dis. Child., 37:505, 1962.

• 13) Brusilow, S. W.:Therapy developed for group of fatal genetic diseases. JAMA, 245:917, 1981.

• 14) 多田啓也, 成沢邦昭ら:Hyperglycinemia, a defect in glycine cleavage reaction. Tohoku J. exp. Med., 98:289, 1969.

• 15) 和田義郎, 多田啓也ら:Hyperglycinemia associated with hyperammonemia:In vitro glycine cleavage in liver. Pediat. Res., 6:622, 1972.

• 16) Perry, T. L. et al.:Nonketotic hyperglycinemia. glycine accumulation due to absence of glycine cleavage in brain. New Eng. J. Med., 292:1269, 1975.
  pubmed

• 17) Gitzelmann, R. et al.:Nonketotic hyperglycinemia. Nonketotic hyperglycinemia treated with strychnine, a glycine receptor antagonist. Helv, paediat. Acta, 32:517, 1977.

• 18) Gerritsen, T. & Waisman, H. A.:Hypersarcosinemia, an inborn error of metabolism. New Eng. J. Med., 275:66, 1966.
  pubmed

• 19) Scott, C. R. et al.:Clinical and cellular studies of sarcosinemia. J. Pediat., 77:805, 1970.
  pubmed

• 20) Scriver. C. R. et al.:Renal tubular transport of proline, hydroxyproline and glycine in health and in familial hyperprolinemia. J. Clin. Invest., 43:374, 1964.
  pubmed

• 21) Efron, M. L.:Familial hyperprolinemia. Report of a second case, associated with congenital renal malformations, hereditary hematuria and mild mental retardation, with demonstration of an enzyme defect. New Eng. J. Med., 272:1243, 1965.
  pubmed

• 22) Harries, J. T. et al.:Low proline diet in Type I hyperprolinemia. Arch. Dis. Child., 46:72, 1971.
  pubmed

• 23) Efron, M. L. et al.:Hydroxyprolinemia. New Eng. J. Med., 272:1299, 1965.
  pubmed

• 24) Pelkonen, R. & Kivirikko, K. I.:Hydroxyprolinemia. New Eng. J. Med., 283:451, 1970.
  pubmed

• 25) Scriver, C. B. et al.:Hyper-β-ralaninemia associated with β-aminoaciduria and y-aminobutyricaciduria, somnolence and seizures. New-Eng. J. Med., 274:636, 1966.

3. アミノ酸再吸収異常(Hartnup病, シスチン尿症, プロリン尿症)

P.71 掲載の参考文献

• 1) Elsden, C. R., Gibson, Q. H. and Wiseman, G.:Selective absorption of aminoacids from the small intestine of the rat, J. physiol., 111:56, 1950.

• 2) Wiseman, G.:Absorption of aminoacids using an in vitro technique, J. Physiol., 120:63, 1953.

• 3) Scriver, C. R.:The human biochemical genetics of aminoacid transport. Pediatrics, 44:348, 1969.
  pubmed

• 4) Baron, D. N., Dent, C. E., Harris, H., Hart, E. W. and Jepson, J. B.:Hereditary pellagra-like rash with temporary cerebellar ataxia, constant renal aminoaciduria, and other bizarre biochemical featurcs. Lancet, 2:421, 1966.

• 5) Jepson, J. B.:Hartnup disease, in the metabolic basis of inherited disease, ed by J. B. Stanbury, J. B. Wyngaaden and D. S. Fredrickson, 4th ed. p. 1563, McGraw-Hill, New York, 1978.

• 6) 多田啓也:アミノ酸輸送障害, 小児医学 3:681, 1970.

• 7) Scriver, C. R.:Hartnup disease. New Engl. J. Med., 273:530, 1965.
  pubmed

• 8) Halvorsen, K. and Halvorsen, S.:Hartnup disease, Pediatrics, 31:29, 1963.
  pubmed

• 9) Milne, M. D.:Hartnup disease, Biochem. J., 111:3, 1969.
  pubmed

• 10) Shaw, K. N. F., Redlich, D., Wright, S. W. and Jepson, J. B.:Dependence of urinary indole excretion in Hartnup disease upon gut flora. Fed. Proc., 19:194, 1960.

• 11) De Laey, P., Hooft, C., Timmermans, J. and Snoeck J.:Biochemical aspects of the Hartnup disease. Ann. Paediatr., 202:145, 1964.

• 12) Asastoor, A. M., Cheng, B., Edwards, K. D., Lant, A. F., Matthews, D. M., Milne, M. D., Navab, F., and Richard, A. J.:Intestinal absorption of dipeptides and corresponding free aminoacids in Hartnup disease. Clin. Sci., 39:1, 1970.

• 13) 大柳和彦, 北畠道之, 高木雅代:Hartnup disease, 児臨 18:323, 1965.
  Medical*Online

• 14) 北川照男:精神簿弱の医学. 岸本鎌一編 p. 123, 金原出版, 東京 1969.

• 15) Thier, S. O. and Segal, S.:Cystinuria, in The metabolic basis of inherited disease, ed. by J. B. Stanbury, J. B. Wyngaaden and D. S. Fredrickson, 4th ed. p. 1578, McGraw-Hill, New York, 1978.

• 16) 浦壁重治, 杉田実, 安東明夫:シスチン尿症, 代謝8巻, 臨時増刊 No. 2, p. 1402, 1971.

• 17) Lester, F. T. and Cusworth, D. C.:Lysine infusion in Cystinuria:The oretical renal thresholds for lysine. Clin. Sci., 44:99, 1973.

• 18) 北川照男:腎尿細管障害症, 小児内分泌・代謝異常, 吉田久, 北川照男, 多田啓也, 中島博徳編, p. 347, 金原出版, 東京, 1977.

• 19) Harris, H., Mittwoch, U., Robson, E. B. and Warren, F. L.:Pattern of amino acid excretion in cystinuria. Ann. Hum. Genet., 19:196, 1955.

• 20) Rosenberg, L. E.:Genetic heterogeneity in cystinuria, in Amino acid metabolism and genetic Variation, ed. by W. L. Nyhan, p. 341, McGraw Hill, New York, 1967.

• 21) Oyanagi, K., Miura, R. and Yamanouchi, T.:Congenital Lysinuria, A new inherited transport disorder of dibasic amino acids, J. Pediat., 77:259, 1970.
  pubmed

• 22) Omura, K., Yamanaka, N., Higami, S., Masuoka, O., Fujimoto, A., Issiki, G. and Tada, K.:Lysine malabsorption syndrome:New type of transport defect. Pediatrics, 57:102, 1976.

• 23) 横山雄, 野村由美子:乳児期に見出し得たシスチン尿症, 臨床小児医学 24:31, 1976.

• 24) Scriver, C. R.:Familial iminoglycinuria, in The metabolic basis of inherited disease, ed. by J. B. Stanbury, J. B. Wyngaaden and D. S. Fredrikson, 4th, ed. p. 1593, McGraw-Hill, New York 1978.

• 25) Joseph, R., Ribierre, M.,:Job, J. C. and Girault, M.:Familial iminoglycinuria, in The metabolic basis of inherited disease, ed. by J. B. Stanbury, J. B. Wyngaaden and D. S. Fredrikson, 4th, ed. p. 1593, McGraw-Hill, New York 1978.

• 26) Tada, K., Morikawa, T., Ando, T., Yoshida, T, and Minagawa, A.:Tohoku J. Exp. Med., 87:133, 1965.
  pubmed

• 27) Morikawa, T., Tada, K., Ando, T., Yoshida, T., Yokoyama, Y. and Arakawa, T.:Prolinuria, Defect in intestinal absorption of iminoacids and glycine, Tohoku J. Exp. Med., 90:105, 1966.

• 28) 千葉力, 横山雄, 沼倉碩彦:プロリン尿症の1例. 児臨 24:2403, 1971.

• 29) Scriver, C. R.:Renal tubular transport of proline, hydroxyproline and glycine. III Genetic basis for more than one mode of transport in human Kidney. J. clin. Invest., 47:823, 1968.

• 30) Goodman, S. I., McIntyer, C. A. and O'Brien, D.:Impaired intestinal transport of proline in a patient with familial iminoacidura. J. Pediat., 71:246, 1967.

4. 非特異性アミノ酸再吸収異常

P.89 掲載の参考文献

• 1) Walsche, J. M.:Disturbances of amino acid metabolism following liver injury. Quart. J. Med. 22:483, 1953.

• 2) Berliner, R. W., Kennedy, T. J. and Hilton, J. G.:Effect of maleic acid on renal function. Proc. Soc. Exp. Biol. Med. 75:791, 1950.
  pubmed

• 3) Fraser, D., Kooh, S. W. and Scriver, C. R.:Hyperparathyroidism as the cause of hyperaminoaciduria and phosphaturia in human vitamin D deficiency. Ped. Res. 1:425, 1967.

• 4) Davidson, L. A. G., Flear, C. T. G. and Donald, K. W.:Transient amino-aciduria in severe potassium depletion. Brit. Med. J. 1:911, 1960.

• 5) Rowley, P. T., Muller, P. S., Watkin, D. M. and Rosenberg, L. E.:Familial growth retardation, renal aminoaciduria and cor pulmonale. I. Description of a new syndrome with case report. Amer. J. Med. 31:187, 1961.

• 6) Fanconi, G.:Der nephrotisch-glukosurische Zwergwuchs mit hypophosphatamischer Rachitis. Dtsch. med. Wschr. 62:1169, 1936.

• 7) Lignac, G. O. Z.:Ueber Storung des Cystinstoffwechsls bei Kindern. Dtsch. Arch. Clin. Med. 145:139, 1924.

• 8) Milne, M. D.:Renal tubular dysfunction. In "Diseases of the kidney" Straus, M. B. & Welt, L. G. Eds., Little Brown & Co., Boston, 1971, p. 1071.

• 9) Schneider, J. A., Schulman, J. D. and Seegmiller, J. E.:Cystinosis and the Fanconi syndrome. In "Metabolic basis of Inherited Disease" 4th ed., Stanbury, J. B., Wyngaarden, J. B. and Fredrickson, D. S. Eds., McGraw-Hill Book Co., New York, 1978, p. 1660.

• 10) Kramer, H. J. and Burgard, U. G.:Further studies on epithelial transport defect in experimental and human Fanconi syndrome.;Effect of maleic acid and L-cystine on sodium transport and (Na+-K+) ATPase of the isolated frogskin. Clin. Chim. Acta 55:57, 1974.

• 11) Schneider, J. A., Rosenbloom, F. M., Bradley, K. H. and Seegmiller, J. E.:Increased free cystine content offibroblasts cultured from patients with cystinosis. Biochem. Biophys. Res. Comm. 29:527, 1967.
  pubmed

• 12) Lowe, C. U., Terrey, M. and McClachlan, E. A.:Organic-aciduria, decreased renal ammonium production, hydrophthalmos, and mental retardation.:clinical entity. Amer. J. Dis. Child. 83:164, 1952.

• 13) 北川照男:遺伝性腎尿細管障害. 内科セミナー「MET1」分子病I, 織田敏次他編, 永井書店, 大阪, 昭55, 214頁.

• 14) Mahoney, C. P.:Multiple proximal tubular dysfunction syndromes (The Fanconi syndrome) In "Metabolic, endocrine and genetic disorders of children." vol. II. Kelly, V. C. ed. Harper & Row Pub. Hagertown, Maryland, 1974, p. 1117.

• 15) Schwarz, V., Golberg, L., Komrower, G. M. and Holzel, A.:Some disturbances of erythrocyte metabolism in galactosemia. Biochem. J. 62:34, 1956.
  pubmed

• 16) Kalckar, H. M., Anderson, E. P. and Isselbacher, K. J.:Galactosemia, a congenital defect in a nucleotide transferase. Biochim. Biophys. Acta 20:262, 1956.

• 17) Holzel, A., Komrower, G. M. and Wilson, V. K.:Aminoaciduria in galactosemia. Brit. Med. J. 1:194, 1952.

• 18) Gitzelmann, R.:Hereditary galactokinase deficiency, a newly recognized cause of juvenile cataract. Ped. Res. 1:14, 1967.

• 19) Gitzelmann, R., Steinmann, B., Mitchel, B. and Haigis, E.:Uridine diphosphate galactose-4-epimerase deficiency.:Helv. Paediat. Acta 31:441, 1976.

• 20) Rosenberg, L., Weinberg, A. and Segal, S.:The effect of high galactose diet on urinary excretion of amino acid in the rats. Biochim. Biophys. Acta 48:500, 1961.
  pubmed

• 21) Chambers, R. A. and Pratt, R. T. C.:Idiosyncracy to fructose. Lancet 2:340, 1956.

• 22) 中村了正, 桜庭均:Hereditary fructosemiaの酵素学的検討, 日本小児科学会誌 82:132, 昭53.

• 23) Hers, H. G. and Joassin, G.:Anomalie de l'aldolase hepatique dans l'intolerance au fructose. Enz. Biol. Clin. 1:4, 1961.

• 24) Morris, R. C.:An experimental renal acidification defect in patients with hereditary fructose intolerance. II. Its distinction from classic renal tubular acidosis;its resemblance to the renal acidification defect associated with the Fanconi syndrome of children with cystinosis. J. Clin. Invest. 47:1648, 1968.

• 25) Gentz, J., Jagenburg, R. and Zetterstrom, R.:Tyrosinelnia, an inborn error of tyrosine metabolism with cirrhsis of the liver and multiple renal tubular damage. J. Pediatr. 66:670, 1965.

• 26) Mass, R. E., Smith, W. R. and Walsh, J. R.:The association of hereditary fructose intolerance and renal tubular acidosis. Amer. J. Med. Sci. 251:516, 1966.
  pubmed

• 27) Wilson, S. A. K.:Progressive lenticular degeneration. A familial nervous disease associated with cirrhosis of the liver. Brain 34:295, 1912.

• 28) Fleischer, B.:Die periphere braun-grunliche Hornhautverfarbung als Symptome einer eigenartigen Allgemeinerkrankung. Munch. med. Wschr. 56:1120, 1909.

• 29) Werlin, S. L. et al.:Diagnostic dilemmas of Wilson's disease. Diagnosis and treatment. Pediatrics 62:47, 1978.
  pubmed

• 30) Furrer, H. U. and Tonz, O.:Die hamolytische Krise bei Morbus Wilson. Z. Kinderheilk. 118:147, 1974.

5. アミノ酸欠乏・過剰症, ビタミン異常に伴うアミノ酸代謝異常

P.113 掲載の参考文献

• 1) 大浦敏明編:小児の先天性代謝異常症-フェニルケトン尿症を中心に-, 小児のメディカルケアシリーズ, 医歯薬出版, 東京, 1980.

• 2) Rouse, E. M.:Phenylalanine deficiency syndrome, J. Pediatr., 69:246, 1966.

• 3) Murdoch, M. M. and Holman. G. H.:Roentgenologic bone changes in phenylketonuria. Amer. J. Dis. Childr., 107:523, 1964.

• 4) Hanley B. W. et al.:Malnutrition with early treatment of phenylketonuria. Pediat. Res., 4:318, 1970.

• 5) 青木久夫, 他:乳児早期におけるフェニールケトン尿症の治療. 日本小児科学会誌, 80:124, 1976.

• 6) Dent. C. E.:In Ross Laboratories. Report of 23rd Pediatric Research Conference. Discussion of Armstrong M. D. No 8-9:96, 1956.

• 7) Mabry C. C. et al.:Maternal pgenylketonuria. A cause of mental retardation in children without the metabolic defect. New Eng. J. Med. 269:1404, 1963.
  pubmed

• 8) 鬼沢仁一, 他:フェニールケトン尿症の最近の問題点, 小児科診療, 30:1748, 1967.

• 9) Stevenson, R. E. et al.:Congenital malformations in offspring of phenylketonuric mothers. Pediatrics, 40:33, 1967.
  pubmed

• 10) Fisch R. O. et al.:Maternal phenylketonuria. Detrimental effects on embryogenesis and fetal developement. Amer. J. Dis. Child 118:847, 1969.

• 11) 北川照男:母体の代謝異常に基づく先天異常, 現代小児科学大系, 年刊追補, 72-a, p. 2, 中山書店, 1972.

• 12) Levy H. L., Lenke, R. R., and Crocker, A. C.:Maternal PKU, Proceedings of a conference., DHHS Publictions So (HSA) 81-5299, US Department of Health and Human Services, Rocknille, Maryland, 1981.

• 13) 青木菊磨:フェニルケトン尿症の病因-脳蛋白合成の立場から (その2), 特にリボゾームの蛋白合成能について, フェニルケトン尿症 (大浦敏明他編), 金原出版, 東京, 1971, p. 140.

• 14) 高田五郎, 多田啓也:実験的高アミノ酸血症における脳蛋白合成, アミノ酸代謝異常症に於ける知能障害の成因に対するアプローチ, 脳と発達, 2:304-, 1970.

• 15) 高田五郎, 多田啓也:実験的高アミノ酸血症における脳内遊離アミノ酸パターン, アミノ酸代謝異常症における知能障害の成因に対するアプローチ, 脳と発達, 4:191, 1972.

• 16) 大浦敏明:代謝性精神薄弱の予防と治療, A, アミノ酸, 精神薄弱の医学 (岸本鎌一, 編), 金原出版, 1969.

• 17) 青野繁雄, 他:第24回小児代謝研究会抄録集 (岐阜), 1981.

• 18) 周逸人:母性フェニルケン尿症ならびに母性ヒスチジン血症の発症機転に関する実験的研究, 大阪市医学会誌, 26:137, 1977.

• 19) 周逸人:母性フェニルケン尿症ならびに母性ヒスチジン血症の発症機転に関する実験的研究 補追, 大阪市医学会誌, 26:707, 1977.

• 20) Neville, B. G. R. et al.:Maternal histidinemia, Arch. Dis. Child., 46:119, 1971.

• 21) Lyon, I. C. T., Gardner, R. J. M. and Veale, A. M. O.:Maternal histidinemia, Arch. Dis. Childh., 49:581, 1974.

• 22) Bulfield, G. and Kacser, H.:Histidinemia in mouse and man. Arch. Dis. Childh., 49:545, 1974.
  pubmed

• 23) 和田義郎:ビタミン要求性の異常, 遺伝的吸収障害と代謝異常,:代謝, 15:767-784, 1978.

• 24) 多田啓也:アミノ酸代謝異常, 東京医学社, 1976, pp. 129.

• 25) Mudd, S. H. and Levy, H. L.:Disorders of Transsulfuration, in Stanbury, J. B., Wyngwrden, J. B. and Fredrickson, D. S. (Eds.), The Metabolic Basis of Inherited Disease, 4th ed., McGraw Hill, New York, 1978. pp. 458-503,

• 26) Harris, H., Penrose, L. S., and Thomas D. H. H.,:Cystathioninuria, Ann. Hum. Genet. 23:442, 1959.

• 27) Frimpter, G. W., Haymovitz, A., and Honwith, M.:Cystathioninuria, New Eng. J. Med. 268:333, 1963.

• 28) Mongeau, J. C. et al.:Cystathioninuria.:Studies of an infant with normal mentality, thrombocytopenia and renal calculi. J. Pediatr., 69:1113, 1966.

• 29) Bittles, A. H. and Carson, N. A. J.:Cystathioninase deficiency in fibroblast cultures from a patient with primary cystathioninuria. J. Med. Genet., 11:121, 1974.

• 30) Pascal, T., et al.:Cystathioninase in long term lymphoid cell lines:Evidence for altered enzyme protein in cystathioninuria, Pediat. Res., 9:315, 1975.

• 31) Matsuo, Y., and Greenberg, D. M.:A crystalline enzyme that cleaves homoserine and cystathionin III., Coenzyme resolution, activation, and inbibitors. J. Biol. Chem. 234:507, 1959.

• 32) Tada, K., et al.:Cystathioninuria not associated with vitamin B6 dependency:A probably new type of cystathioninuria. Tohoku J. Exp. Med. 95:235, 1968.

• 33) Levy, H. L, Mudd, S. H., and Madigan, P. M.:Pyridoxine-unresponsive cystathionininuria. Pediat, Res., 7:162, 1973.

• 34) Pascal, T. A. et al.:Vitamin B6-responsive and unresponsive cystathioninuria. Two variant molecular forms. Science, 190:1209, 1975.
  pubmed

• 35) Barber, G. W., and Spaeth, G. L.:Pyridoxine therapy in homocystinuria. Lancet. I:337, 1967.

• 36) Yoshida, T., et al.:Homocystinuria of vitamin B6 dependent type. Tohoku J. Exp. Med., 96:235, 1968.
  pubmed

• 37) 一色玄, 他:ビタミンB6依存性ホモシスチン尿症の一例, 代謝, 13:1619, 1976.

• 38) Seashore, M. R., Durant, J. L. and Rosenberg, L E.:Studies of the mechanism of pyridoxine responsive homocystinuria. Pediat. Res. 6:187, 1972.
  pubmed

• 39) Mudd, S. H. et al.:Homocystinuria due to cystathionine synthetase deficiency:the effect of pyridoxine. J. Clin. Invest. 49:1762, 1970.

• 40) Rassin, D. K., et al.:Homocysteine and cysteine loads in patients with homocystinuria due to cystathionine synthase deficiency:effects of vitamine B6. Clin. Chim. Acta, 79:197, 1977.
  pubmed

• 41) Kim, Y. J. and Rosenberg, L. E.:On the mechanism of pyridoxine responsive homocystinuria. II. Properties of normal and mutant cystathionine β-synthetase from cultured fibroblasts. Proc. Natl. Acad. Sci. U. S. A., 71:4821, 1974.

• 42) Knapp, A.:Uber eine neue Hereditare von Vitamin B6 abhangige Storung in Tryptophan Stoffwechsel. Clin. Acta., 5:6, 1960.

• 43) Tada, K. et al.:Vitamin B6, dependent xanthurenic aciduria (I), Tohoku J. Exp. Med. 93:115, 1967.
  pubmed

• 44) Tada, K. et al.:Vitamin B6 dependent xanthurenic aciduria (II), Tohoku J. Exp. Med., 95:107, 1968.

• 45) 多田啓也, 横山義正:B6依存性キサントレン酸尿, 蛋白質核酸酵素, 13:311, 1968.

• 46) Hunt, A. D. et al.:Pyridoxine dependency. Pediatrics, 13:140, 1957.

• 47) Yoshida, T., Tada, K., and Arakawa Ts.:Vitamin B6 dependency of glutamic acid decarboxylase in the kidney from a patient with vitamin B6 dependent connulsion. Tohoku J. exp. med., 104;195, 1971.

• 48) Horrigan, D. D. and Harris, J. W.:Vitamin B6 responsive anemia, Advances Intern. Med., 12:103, 1964.

• 49) Rosenberg, L. E.:Disorders of propionate, methylmalonate and cobalamin metabolism, in Stanbury, J. B. et al (ed.):The Metabolic Basis of Inherited Disease. 4th ed., 1978. p. 411.

• 50) Oberholzer, V. G. et al.:Methylmalonic aciduria:an inborn errors of metabolism leading to chronic metabolic acidosis. Arch. Dis. Childh., 42:492, 1967.
  pubmed

• 51) Stokke, O. et al.:Methylmalonic acidemia. A new inborn error of metabolism which may cause fatal acidosis in the neonatal period. Scand. J. Clin. Invest., 20:313, 1967.

• 52) Rosenberg, L. E., Lilljeqvist, A. C. and Hsia Y. E.:Methylmalonic aciduria:metabolic block localization and vitamin B12 dependency. Science, 162:805, 1968.

• 53) Morrow, G. et al.:Congenital methylmalonic acidemia:Enzymatic evidence for two forms of the disease. Proc. Natl. Acad. Sci. 63:191, 1969.
  pubmed

• 54) Mudd, S. H., Levy, H. L. and Abeles, R. H.:A derangement in B12 metabolism leading to homocystinemia, cystathioninemia and methylmalonic aciduria. Biochem. Biophys. Res. Comm., 35:121, 1969.

• 55) Kang, E. S., Snodgrass, P. J. and Gerald, P. S.:Methylmalonyl coenzyme Aracemase defect:another cause of methylmalonic aciduria. Pediat. Res., 6:875, 1972.

• 56) Rosenberg, L. E. et al.:Vitamin B12 dependent methylmalonic aciduria:Defective B12 metabolism in cultured fibroblasts. Biochem. Biophys. Res. Comm. 37:607, 1969.

• 57) Morrow, G. 3d. and Lebowitz J.:Studies of methylmalonyl-coenzyme A carbonylmutase activity in methylmalonic acidemia H. In vitro binding kinetics with adenosylcobalamin. Biochem. Med., 15:241, 1976.

• 58) Mahoney, M. J. et al.:Defective metabolism of vitamin B12 in fibroblasts from patients with methylmalonic aciduria. Biochem. Biophys. Res. Commun. 44:375, 1971.

• 59) Mahoney, M. J. et al.:Methylmalonic acidemia:Biochemical heterogeneity in defects of 5'-deoxy adenosylcobalamin synthesis., Proc. Natl. Acad. Sci. USA., 72:2799, 1975.

• 60) Goodman, S. L. et al.:Homocystinuria with methylmalonic aciduria:Two cases in a sibship. Biochem. Med., 4:500, 1970.

• 61) Dillon, M. J. et al.:Mental retardation, megaloblastic anemia, methylmalonic aciduria and abnormal homocysteine metabolism due to an error in vitamin B12 metabolism. Clin. Sci. mol. Med., 47:43, 1974.

• 62) Rosenberg, L. E.:Absence of an intracellular cobalamin-binding protein in cultured fibroblasts from paients with defective synthesis of 5'-deoxy adenosylcobalamin and methylcobalamin. Proc. Natl. Acad. Sci. U. S. A., 72:4617, 1975.

• 63) Ampola, M. G. et al.:Prenatal therapy of a patient with vitamin B12 responsive methylmalonic acidemia. New Eng. J. Med., 293:313, 1975.
  pubmed

• 64) Mudd, S. H. et al.:Homocystinuria associated with decreased methylenetetrahydrofolate reductase activity. Biochem. Biophys. Res. Commun., 46:905, 1972.
  pubmed

• 65) Freeman, J. M., Finkelstein, J. D. and Mudd, S. H.:Folate responsive homocystinuria and"schizophrenia"a defect in methylation due to deficient N5, 10-methylene tetrahydrofolate reductase activity. New Eng. J. Med., 292:491, 1975.
  pubmed

• 66) Narisawa, K. et al.:Infantile type of homocystinuria with N5, 10 methylenetetrahydrofolate reductase defect. Tohoku J. exp. Med. 121:185, 1977.
  pubmed

• 67) Wong, P. W. K. et al.:Folic acid nonresponsive homocystinuria due to methylentetrahydrofolate reductase deficiency. Pediatrics 59:749, 1977.

• 68) Kanwar, Y. S., Manaligod, J. R. and Wong P. W. K.:Morphologic studies in a patient with homocystinuria due to N5, 10-methylenetetrahydrofolate reductase deficiency. Pediat Res. 10:598, 1976.

• 69) Arakawa, Ts. et al.:Megaloblastic anemia and mental retardation associated with hyperfolic acidemia:probably due to N5 methyltetrahydrofolate transferase deficiency. Tohoku J. exp. Med., 93:1, 1967.

• 70) Arakawa, Ts.:Congenital defects in folate utilization., Amer. J. Med., 48:594, 1970.

• 71) Perry, T. L., et al.:Metabolic studies of a family with massive formimino glutamic aciduria. Pediat. Res., 9:117, 1975.

• 72) Walters, T. R.:Congenital megaloblastic anemia responsive to N5-for-myltetrahydrofolic acid administeration. J. Pediatr., 70:686, 1967.

• 73) Tauro, G. P. et al.:Dihydrofolate reductase deficiency causing megaloblastic anemia in two families. New Eng. J. Med. 294:466, 1976.
  pubmed

• 74) Scriver, C. R. et al.:Thiamine-responsive maple syrup urine disease. Lancet, 1:310, 1971.
  pubmed

• 75) Barnes, N. D. et al.:Biotine-responsive propionic acidemia. Lancet, II:244, 1970.

• 76) Eljarn, L. et al.:β-Hydroxyisovaleric aciduria and β-methylcrotonylglycinuria:A new inborn error of metabolism. Lancet, II:521, 1970.

• 77) Gompertz, D. et al.:Child with a defect in leucine metabolism associated with beta-hydroxy isovaleric aciduria and beta methylcrotonylglycinuria. Arch. Dis. Childh., 48:975, 1973.

• 78) Gompertz, D. et al.:Biotin-responsive β-methylcrotonylglycinuria. Lancet, II:22, 1971.

• 79) Chalmers, R. A., Bickle, S. and Watts, R. W. E:A method for the determination of volatile organic acids in aqueous solution and urine, and the results obtained in propionic acidemia, beta methyl crotonyl glycinuria and methylmalonic acidemia. Clin. Chim. Acta., 52:31, 1974.

• 80) Chalmers, R. A., Lawson, A. M., and Watts, R. W. E.:Studies on theurinary acidic metabolites excreted by patients with beta methylcrotonyl glycinuria propionic acidemia, and methylmalonic acidemia, using gas liquid chromatography and mass spectrometry. Clin. Chim. Acta., 25:43, 1974.

• 81) Sweetman, L. et al.:Propionyl-CoA carboxylase deficiency in a patient with biotin-responsive 3-methyl crotonyl glycinuria. Pediat. Res., 11:1144, 1977.

6. 先天性蛋白代謝異常

P.146 掲載の参考文献

• 1) 河合忠:血漿蛋白その基礎と臨床, 医学書院, 東京, 1969.

• 2) 河合忠:血漿蛋白代謝異常症, 新小児医学大系第7巻E, 出生前小児科学V, 中山書店, 東京, 1981.

• 3) 河合忠:血漿蛋白とその異常, 新版日本血液学全書8血漿蛋白と免疫グロブリン, 丸善, 東京, 1981.

• 4) 大谷英樹:血漿蛋白とその臨床, 中外医学社, 東京, 1978.

• 5) 平山千里, 右田俊介編:血漿タンパク質, 医歯薬出版, 東京, 1979.

• 6) Kawai, T.:Clinical Aspects of the Plasma Proteins, Igaku-Shoin, Tokyo, 1973.

• 7) Ritzmann, S. E. and Daniels, J. C.:Serum Protein Abnormalities. Dianostic and Clinical Aspects. Little, Brown and Co., Boston, 1975.

• 8) Putnam, F. W. (Ed.):The Plasma Proteins, Vol. I, II, III. Academic Press, New York, 1977.

• 9) Keyser, J. W.:Human Plasma Proteins, Their investigation in pathological conditions. John Wiley & Sons, Chishester, 1979.

7. 糖質代謝異常

P.158 掲載の参考文献

• 1) Cahill, C. F.:New Enyl. J. Med., 282:668, 1970.

• 2) Banks, P., Bartley, W., Birt, L. M.:The Biochenistry of the tissue, J. Wiley & Sons, London, p, 325, p. 465, 1976.

• 3) Cornblath, M., Schwartz, R.:Disorders of carbohydrate metabolism in infancy., W. B. Saunders Co., Philadelphia, p. 1, 1976.

• 4) Wiseman, G.:Absorptin from the intestine, N. Y. Acad. Press. Inc, 1964.

• 5) Froesch, E. R.:Essential Fructosuria, Hereditary Fructose Intolerance, and Fructose-1, 6-Diphosphatase Deficiency, in"The metabolic Basis of Inherited Diseases"edt. by. J. B. Stanbury, J. B. Wyngaarden, D. S. Fredrickson. McGraw-Hill Co. N. Y. p. 121, 1978.

• 6) Renold, A. E., Thorn, G. W.:Am. J. Med., 19:163, 1955.

• 7) McIlwain, Biochemistry and the Central Nervus System. Edinburgh, Churchill-Livingoton, 1971.

• 8) Capkova, A., Jirasek, J. E.:Biol. Neonate, 13:129, 1969.

• 9) 美濃真, 林正樹, 上田暢之助, 広谷幸一, 長谷川隆通, 藤井邦生:小児科, 15:61, 1974.

• 10) Harper, H. A.:Review of Phyiological Chemistry. Lange, Med, Publ. LosAltos. 1977.

• 11) Felig, P.:Ann. Rev. Biochem, 44:933, 1975.
  pubmed

• 12) 美濃真, 林正樹, 小西和孝:小児科臨床, 33:403, 1980.
  Medical*Online

• 13) Hayashi, M., Koniohi, K., Kameoka, A., Mino, M.:J. Nutr. Sci. Vitaminol. 27:449, 1981.

P.166 掲載の参考文献

• 1) Zuppinger, K. A.:Hypoglycemia in childhood S. Karger, Basel, 1975.

• 2) Kingsley, G. R., Getchell, G.:Clin. Chem. 6:466, 1960.
  pubmed

• 3) Bergmeyer, H. U., Bernt, E.:Methods in Enzymatic Analysis, Acad. Press, Vol. 3, p. 1205, 1974.

• 4) Bergmeyer, H. U., Brendt, E., Schmidt, E, Stork, H.:Methods of Enzymatic Analysis Acad. Press. Vol. 3, p. 1196, 1974.

• 5) Cornblath, M., Schwartz, R.:Disorders of Carbohydrate Metabolism in Infancy, Saunders, W. B. Philadelphia, 1976.

• 6) Traisman, H. S.:Management of Juvenile Diabetes Mellitus. Mosby, CV. Co. Saint Louis 1971.

• 7) 竹中一彰:大阪医科大学誌, 38:106, 1979.

• 8) 日比逸郎, 他:日児誌, 83:1499, 1979.

• 9) Senior, B., Loridan, L.:J. Pediat. 74:529, 1969.
  pubmed

• 10) 林正樹:大阪市医学会誌, 24:571, 1975.

P.183 掲載の参考文献

• 1) 垂井清一郎:糖原病, 日本臨牀, 35:1154, 1977.
  Medical*Online

• 2) Felig, P.:Glykogen Storage Diseases, in Metabolic Control and Disease, 8th Ed. (edit. by Bondy, P., H. & Rosenberg, L., E.) p. 364-392, 1980, W. B. Saunders Company. Philaderphia, London, Tront.

• 3) Huijing, F.:Biochim. Biophys. Acta, 206:199, 1970.
  pubmed

• 4) 垂井清一郎:グリコーゲン代謝異常, 蛋白質, 核酸, 酵素. 24:516, 1979.

• 5) Mayers, P., A.:Metabolism of Carbohydrate in Review of Physiological Chemistry, 17th Ed. (edit. by Harper, H., A. Rodwell, V., W. & Mayes, P., A.) p. 301-306, 1979. Lange Medical Publications, Maruzen Asian Ed. Tokyo.

• 6) 川村正彦:糖原病, 小児医学, 43:895-940, 1976.

• 7) Cornblath, M. & Schwarz, R.:Disorders of glykogen Metabolism in Disorders of Carbohydrate Metabolism in Infancy, 2nd Ed. p. 231-293, 1976, W. B. Saunders Company, Philadelphia, London, Tronto.

• 8) 以倉友治:糖原蓄積病 I, II, III, IV型, 代謝, 8:1218, 1971.

• 9) Fernandes, J. & Pikaar, N., A.:Ketosis in hepatic glycogenesis. Arch. Dis. Child., 47:41, 1972.

• 10) 廖英一:小児における糖代謝とその異常に関する研究, 第3編, 日児誌. 78:689, 1974.

• 11) Fernandes, J., Huijing F. & Van De Kamer, J. H.:A screening method for liver glycogen disease. Arch. Dis. Child. 44:311, 1969.
  pubmed

• 12) Fernandes, J., Koster, J. F., Grose, W. F. A & Sorgedrager. N.:Hepaticphosphorylase deficiency. Its differentiation from other hepatic glycogenoses. Arch. Dis. Child. 49:186, 1974.
  pubmed

• 13) 青木菊麿, 廖英一, 伊藤文之:Glucagonによる糖原病の病型診断. 小児外科内科, 8:835, 1976.

• 14) McAdams, A. J., Hug. G., & Bove, K. E.:Glycogen storage disease types I to X. Criteria for morphologic diagnosis. Hum. Pathol., 51463, 1974.

• 15) 大和田操:糖原病, 今日の小児治療指針4版 (加藤英夫, 浦田久, 山下文雄編) 1981, 医学書院.

• 16) Starzl, T. E., Putnam, C. W., Porter, K. A., Halgrimson, C. G., Corman, J., Brown, B. I., Gotlin, R. W., Rodgerson, P. O. & Greene, H. L.:Portal diversion for the treatment of glycogen storage disease in humans. Ann. Surg. 178:525, 1973.

• 17) Hers, H. G.:α-glucosidase deficiency in generalized glycogen-storage disease (Pompe's disease). Biochem, J. 86:11, 1963.

• 18) Angelini, C., & Engel, A. G.:Comparative study of acid maltase deficiency. Arch. Neurol. 26:344, 1972.
  pubmed

• 19) 曽山浩吉, 小野悦子:先天代謝異常の検査, 糖原病II型の尿による診断法を中心として. 臨床病理, 26:1022, 1978.

• 20) 谷口昂:リソゾーム蓄積疾患とリンパ球酵素. 日児誌, 82:1273, 1978.

• 21) Nadler, H. L. & Messina, A. M.:In utero detection of Type II glycogenosis, Lancet 11:1277, 1969.

• 22) Drytus, J. C. & Poenaru, L.:glucosidase in white blood cell with reference to the detection of acid glucosidase dificiency. Bioch. Biophys. Res. Comm. 85:615, 1978.

• 23) Hug, G. & Schubert, W. K.:Lysosomes in type II glycogenosis. Changes during administration of extract from Aspergillus niger. J. Cell Biol. 35:C1-C6, 1967. 2) より引用

• 24) Fennandes. J. & Pikaar, N. A.:Ketosis in hepatic glycogenosis. Arch. Dis. Childh. 47:41, 1972.

• 25) Huijing, F.:Glycogen metaboliom and glycogen storage disease. Psychol. Rev. 55:609, 1975.

• 26) Sinclair, L.:Type VIII hepatic phosphorylase kinase deficiency in Metabolic Disease in Childhood. 1st Ed. p. 269, 1979. Blackwell Scientific Publications, Oxford London Edinburgh Melbourne.

P.200 掲載の参考文献

• 1) McArdle B.:Myopathy due to a defect in muscle glycogen breakdown. Clin. Sci. 10:13, 1951.
  pubmed

• 2) Mommaerts W. F. H. M., B. Illingworth, C. M. Pearson, R. J. Guillory & K. Seraydarian:A functional disorder of muscle associated with the absence of phosphorylase. Proc. Nat. Acad. Sci. 45:791-797, 1959.

• 3) Schmid R. & Mahler R.:Chronic progressive myopathy with myoglobinuria:demonstration of glycogenolytic defect in muscle. J. Clin. Invest. 38:2044, 1959.
  pubmed

• 4) Dreyfus J. C. & Y. Alexandre:Immunological studies on glycogen storage disease, type III and V. Demonstration of the presence of an immunoreactive protein in one case of muscle phosphorylase deficiency. Biochem. Biophys. Res. Comm. 44:1364-1370, 1971.

• 5) Feit H. & Brooke M. H.:Myophosphorylase deficiency. Two different molecular etiologies. Neurology 26:963, 1976.
  pubmed

• 6) Roelofs R. I., Engel W. K. & Chauvin P. B.:Histochemical phosphorylase activity in regenerating musclefibers from myophosphorylase deficient patients. Science, 177:795, 1977.

• 7) DiMauro S., Arnold S., Miranda A. & Rowland L. P.:McArdle disease:The mystery of reappearing phosphorylase activity in muscle culture. A fetal isoenzyme. Ann. Neurol. 3:60, 1978.
  pubmed

• 8) P. J. Vinken & G. W. Bruyn:Handbook of clinical neurology. volume 41:Diseases of Muscle (Part II) In. DiMauro S.:Metabolic myopathies Chapter 6:185-190, 1979.

• 9) Gruener R., B. McArdle, B. Ryman & R. O. Weller:Contracture of phosphorylase deficient muscle. J. Neurol. Neurosurg. Psychiat. 31:268-283, 1968.

• 10) J. P. Grunfeld, D. Ganeval, J. Chanard, M. Fardeau & J. C. Dreyfus:Acute renal failure in McArdle's disease. Report of Two Cases. New. Engl. J. Med. 286:1237-1241, 1972.

• 11) P. M. Ford. & W. R. C. Weir:Acute renal failure complicating McArdle's syndrome. Postgraduate Medical J. 49:926-928, 1973.

• 12) Pernow B. B., Havel R. J. & Jennings D. B.:The second wind phenomenon in McArdle's syndrome. Acta. Med. Scand. 472:294, 1967.

• 13) Baksi A. K., Buxton P. H., Cochrane P. & Hughes R. R.:Lactate production in McArdle's disease. Postgrad. Med. J. 53:161, 1977.
  pubmed

• 14) Dyken M. L, D. M. Smith & R. L. Peake:An electromyographic diagnostic screening test in McArdle's disease and a case report. Neurology (Minneap.) 17:45-50, 1967.

• 15) Schotland D. L.:Ultrastructure of muscle in glycogen storage disease. In:C. M. Pearson & F. K. Mostofi, eds.:The striated muscle. Baltimore, Md., Williams & Wilkins. p. 410-426, 1973.

• 16) Chui L. A. & Munsat T. L.:Dominant inheritance of McArdle syndrome. Arch. Neurol. 33:636, 1976.
  pubmed

• 17) DiMauro S. & P. L. Hartlage:Fatal infantile form of muscle phosphorylase deficiency. Neurology (Minneap) 28:1124-1129, 1978.

• 18) Engel W. K., E. L. Eyermann & H. E. Williams:Late onset type of skeletal muscle phosphorylase deficiency. A new familial variety with completely and partially affected subjects. New. Engl. J. Med. 268:135-137, 1963.

• 19) Tarui S., Okuno G., Ikura Y., Tanaka T., Suda M. & Nishikawa M.:Phosphofructokinase deficiency in skeletal muscle. A new type of glycogenosis. Biochem. Biophys. Res. Commun. 19:517, 1965.

• 20) Layzer R. B., Rowland L. P. & Ranney H. M.:Muscle phosphofructokinase deficiency. Arch. Neurol, 17:512, 1967.
  pubmed

• 21) Serratrice G., Monges A., Roux. H., Aguaron R. & Gambarelli D.:Forme myopathique du deficite phosphofructokinase. Rev. Neurol 120:271, 1969.

• 22) Tobin W. E., Huijing F., Porro R. S. & Salzman R. T.:Muscle pho-sphofructokinase deficiency. Arch. Neurol. 28:128, 1973.

• 23) Dupond J. L., Robert M., Carbillet J. P. & Leconte des Floris. R.:Glycogenose musculaire et anemie hemolytique par deficit enzymatique chez deux gemains. Forme familiale de maladie de Tarui, par deficit en phosphofructokinase musculaire et erythrocytaire. Nouv. Presse. Med. 6:2665, 1977.
  pubmed

• 24) Guibaund P., Carrier H., Mathieu M., Dorche C. L., Parchoux B, Bethenod M, Larbre F.:Observation familiale de dystrophie musculaire congenitale par deficit en phosphofructokinase. Arch. Fr. Pediatr. 35:1105-1115, 1978.

• 25) Vora S., Corash L. & Piomelli S.:The molecular mechanism of inherited Red cell phosphofructokinase deficiency associated with hemolysis and myopathy (Tarui's disease) . Blood 52 (Supple 1) 105:1978.

• 26) Tarlow M. J., D. A. Ellis, G. W. Pearce and M. Anderson:Muscle phosphofructokinase deficiency (Tarui's disease) Proc. N. Soc. 38 110A (Abstracts of Communications) 1979.

• 27) Agamanolis D. P., Askari A., Di Mauro S., Hays A., Kumar K., Lipton M. & Raynor A.:Muscle phosphofructokinase deficiency:Two case with unusual polysaccharide accumulation and immunologically active enzyme protein. Muscle & Nerve, 3:456-467, 1980.
  pubmed

• 28) Tarui S., Kono N., Nasu T. & Nishikawa M.:Enzymatic basis for the coexistence of myopathy and hemolytic disease in inherited muscle phosphofructokinase deficiency. Biochem. Biophys. Res. Commun. 34:77, 1969.
  pubmed

• 29) Bonilla E. & D. L. Schotland:Histochemical diagnosis of muscle phosphofructokinase deficiency. Arch. Neurol. (Chic) 22:8-12, 1970.

• 30) Vora S., Corash L, W. K. Engel, Durham S. Seaman C. & Piomelli S.:The molecular mechanism of the inherited phosphofructokinase deficiency associated with hemolysis and myopathy. Blood 55:629, 1980.

• 31) Etiemble J., Picat Ch, Simeon J., Blatrix Ch & Boicin P.:Inherited erythrocyte phosphofructokinase deficiency. Molecular mechanism. Hum. Genet. 55:383-390, 1980.

P.211 掲載の参考文献

• 1) Odievre, M. Gentil, C., Gauter, M. and Alagille, D.:Hereditary Fructose Intolerance in Childhood. Amer. J. Dis. Child., 132:605-608, 1978.

• 2) Froesch, E. R.:Essential fructosuria, hereditary fructose intolerance, and fructose-1, 6-diphosphatase deficiency. in The Metabolic Basis of Inherited Disease. ed. by Stanbury, J. B., Wyngaarden, J. B., Fredrickson, D. S., 4th ed., P. 121-136, Mc Graw-Hill Co., New York, 1978.

• 3) Philips, M. J., Path, M. C., Little, J. A., and Ptak, T. W.:Subcellular Pathology of Hereditary Fructose Intolerance. Am. J. Med., 44:910-921, 1968.

• 4) 北川照男, 大和田操:先天性代謝異常症の診断と治療. 小児医学, 11:761-775, 1978.

• 5) Edwards, W. L, Burke, L., and Fox, I. H.,:Purine metabolic alterations in purine nucleoside phosphorylase deficiency. in Inborn Errors of Specific Immunity. ed. by Pollara, B., Pickering, R. J., Meuwissen, H, J., and Porter, I, H., P. 107-115, Academic Press, New York, 1979.

• 6) 中村了正, 宇賀直樹:果糖不耐症. 日本臨牀, 36:228-229, 1978.

• 7) Schmidt, E., Schmidt, F. W., and Wildhirt, E.:Vergleichende Aktivittits Bestimmungell von Enzymen des energielieferenden Stoffwechsels in der menschlichen und in der Rattenleber. Klin. Wochenschr., 36:172-176, 1958.
  pubmed

• 8) Schmidt, E., Schmidt, F. W., and Wirdhirt, E.:Fermentaktivitats Bestimmungen in der menschlichen Leber. 6. Mitteilung. Klin. Wochenschr., 37:1221-1229, 1959.

• 9) Froesch, E. R., Wolf, H. P., Baitsch, H., Prader, A., and Labhart, A.:Hereditary fructose intolerance:an inborn defect of hepatic fructose-1-phosphate splitting aldolase. Am. J. Med., 34:151-167, 1963.
  pubmed

• 10) Froesch, E. R.:Essential fructosuria and hereditary fructose intolerance, in The Metabolic Basis of Inherited Disease by Stanbury, J. B., Wyngaarden, J. B., Fredrickson, D. S., 3rd ed., P. 131-148 Mc Graw-Hill Co., New York, 1972.

• 11) Wolf, H. P., and Froesch, E. R.:Ueber Aldolasen, IV. Mitteilung. Enzymaktivitaten in der Leber bei hereditarer Fructoseintoleranz. Biochem. Z., 337:328-332, 1963.

• 12) Hers, H. G.:Augmentation de l'activite de la glucose-6-phosphatase dans l'intolerance au fructose. Rev. Int. Hepatol., 12:6, 1962.

• 13) Schapira, F., Schapira, G., and Dreyfus, J. C.:La Lesion enzymatique de la fructosurie benign. Enzymol. Biol. Clin. (Basel), 1:1970, 1961/1962.

• 14) Pitkanen, E., and Perheentupa, J.:Eine biochemische Untersuchung liber zwei Falle von Fructoseintoleranz. Ann. Paediatr. Fenn., 8:236, 1962.

• 15) Nikkila, E. A., Somersalo, O., Pitkanen, F., and Perheentupa, J.:Hereditary fructose intolerance, an inborn deficiency of liver aldolase complex. Metabolism, 11:727, 1962.

P.219 掲載の参考文献

• 1) Gray, G. M. and Santiago, N. A.:Intestinal β-galactosidases. I. Separation and characterization of three enzymes in normal human intestine. J. Clin. Invest. 48:716, 1969.

• 2) Silverblatt, E. R. Conklin, K. and Gray, G. M.:Sucrase precursor in human jejunal crypts. Am. Soc. Clin. Invest. Abst. #286, p. 76a, 1974.

• 3) Antonowicz, I. and Lebenthal, E.:Developmental pattern of small intestinal enterokinase and disaccharidase actvities in the human fetus. Gastroenterology, 72:1299, 1977.

• 4) Krasilnikoff, P. A., Gudmand-Hoyer, E. and Moltke, H. H.:Diagnostic value of disaccharide tolerance tests in children. Acta Paediat. Scand. 64:693, 1975.

• 5) Levitt, M. D.:Production and excretion of hydrogen gas in man. N. Engl. J. Med. 281:122, 1969.

• 6) Nose, O., Iida, Y., Kai, H., Harada, T., Ogawa, M., and Yabuuchi, H.:Breath hydrogen test for detecting lactose malabsorption in infants and children. Prevalence of lactose malabsorption in Japanese children and adults. Arch. Dis. Child. 54:436, 1979.
  pubmed

• 7) Holzel, A., Schwartz, V., and Sutcliffe, K. W.:Defective lactose absorption causing malnutrition in infancy. Lancet, 1:1126, 1959.

• 8) Auricchio, S., Rubino, A., Landolt, M., Semenza, G., and Prader, A.:Isolated intestinal lactose deficiency in the adult. Lancet, 2:324, 1963.

• 9) Johnson, J. D., Kretchmer, M. and Simoons, F. J.:Lactose malabsorption:Its biology and history. Adv. Pediat. 21:197, 1974.

• 10) Committee on nutrition, American Academy of Pediatrics:The practical significance of lactose intolerance in children. Pediatrics, 62:240, 1978.

• 11) Simoon, F. J.:Age of onset of lactose malabsorption. Pediatrics, 66:646, 1980.

• 12) Freiburghaus, A. U, Schmitz, J., Sehindler, M., Rotthauwe, H. W. Kuitunen, P., Launiala, K., and Hadorn, B.:Protein patterns of brush border fragments in congenital lactose malabsorption and in specific hypolactasia of the adult. N. Engl. J. Med. 294:1030, 1976.

• 13) Burke, V., Kerry, K. R., and Anderson, C. M.:The relationship of dietary lactose to refractory diarrhea in infancy. Aust. Paediatr. J. 1:147, 1965.

• 14) Durand, P.:Lactosuria idiopathica in una paziente con diarrea cronica ed acidosi. Minerva pediat. 10:706, 1958.

• 15) Arakawa, T., Akabane, J. and Akabane, M.:Lactose intolerance with normal activity of lactase. Tohoku J. Exp. Med. 83:365, 1964.
  pubmed

P.224 掲載の参考文献

• 1) Hiatt, H. H.:Pentosuria in"The Metabolic Basis of Inherited Disease," edt. by Stunbury, J. B., Wyngaarden, J. B., Fredrickson, D. S., McGraw-hill, N. Y., p. 110, 1978.

• 2) Wang, Y. M., Van Eys, J.:New Engl. J. Med., 282:892, 1970.
  pubmed

• 3) Wright, W. T.:New Engl. J. Med., 265:1154, 1961.
  pubmed

• 4) Freedberg, I. M., Feingold, D. S., Hiatt, H. H.:Biochem., Biophys. Res. Commun., 1:328, 1959.

• 5) Lasker, M.:Hum. Biol., 27:294, 1955.
  pubmed

• 6) Lederer, E., Lederer, M.:Chromatography, Elsevier, Amsterdam, 1955.

• 7) Hough, L, Jones, J. K. N., Wadman, W. H.:J. Chem. Soc., 1702, 1950.

P.229 掲載の参考文献

• 1) Cornblath, M., Schwarz, R.:Disorder of Carbohydrate Metabolism in Infancy, Sauders, philadelphia p. 421, 1976.

• 2) Zuppinger, K. A.:Hypoglycemia in childhood, Karger, S. Basel, p. 43, 1974.

• 3) Cochrane, W. A., Payne, W. W., Simpkiss, M. J., Woolf, L. I, J. Clin. Invest. 35:411, 1956.
  pubmed

• 4) Fajans, S. S.:New Engl. J. Med., 272:1224, 1965.
  pubmed

• 5) Sauls, H. S.:Hypoglycemia in infancy and childhood, in Kelley, C. V., Limbeck, G. A (eds):Metabolic, Endocrine, and Genetic Disorders of Children, Vol. 2, Harper & Row, N. Y., p. 720, 1974.

• 6) Mabry, C. C., Di George, A. M., Auerbach, V. H.:J. Pediat. 57:526, 1960.

• 7) Hartmann, A. F., Sr., Wohtmann, H. J., Holowach, J., Caldwell, B. M.:J. Pediat., 52:211, 1960.

• 8) Gentz, J., Lehmann, O., Zetterstrom, R.:Acta Pediat. Scand., 51:169, 1962.

• 9) Grumbach, M. M., Kaplan, S. L.:J. Pediat., 57:346, 1960.
  pubmed

• 10) Rosenthal, I. M., Metz, R., Pirani, C.:Am. J. Dis. Child., 107:343, 1964.
  pubmed

• 11) DiGeorge, A. M., Auerbach, V. H.:Am. J. Med. Sci., 240:792, 1960.

• 12) Flanagan, G. C., Schwartz, T. B., Ryan, W. G.:J. Clin. Endocrinol., 21:401, 1961.

• 13) Marrach, D., Marks, V., Rose, F. C.:Lancet, 2:1329, 1960.

• 14) Becker, F. O., Clark, J., Schwartz, T. B.:J. Clin. Endocrinol., 24:554, 1964.

• 15) Fajans, S. S., Knopf, R. F., Floyd, J. C., Jr., Power, L., Conn, J. W.:J. Clin. Invest. 42:216, 1963.

• 16) Mabry, C. C., DiGeorge, A. M., Auerbach, V. H.:J. Pediat., 57:539, 1960.
  pubmed

• 17) Gomez, M. R., Gotham, J. E., Meyer, J. S.:Pediat., 28:935, 1961.

• 18) Misugi, K., Misugi, N., Sotos, J., Smith, B.:Arch. Path. 89:208, 1970.
  pubmed

• 19) Cochrane, W. A., Payne, W. W., Simpkiss, M. J., Woolf, L. I.:J. Clin. Invest., 35:411, 1956.
  pubmed

• 20) Roth, H., Segal, S.:Pediat, , 34:831, 1964.

• 21) Fomon, S. J., Thomas, L. N., Filer, J. T., Anderson, T. A., Berman, Jr., K. E.:Acta Paediat. Scand., 62:33, 1973.

• 22) Snyderman, S. E.:Amino acid requirements of the infants, in Nyhan, W. L (ed) Heritable Disorders of Amino Acid Metabolism, John Wiley & Scns, N. Y, p. 641, 1974.

• 23) Drash, A., Wolff, F.:Metabolism, 13:487, 1964.
  pubmed

• 24) Goodman, H. G., Morishima, A., Grumbach, M. M.:Ann. N. Y. Acad. Sci. 150:367, 1968.
  pubmed

P.240 掲載の参考文献

• 1) Segal, S.:Disorders of galactose metabolism. In Stanbury, J. B., Wyngaarden, J. B. and Fredrickson, D. S. (eds):The metabolic basis of inherited disease. 4th ed., New York, McGraw-Hill, p. 160, 1978.

• 2) Hug, G.:Defects in intermediary carbohydrate metabolism. In Vaughan, V. C., III, McKay, R. J. Jr., and Behrman, R. E. (eds.):Nelson textbook of pediatrics. 11th ed., Philadelphia, Saunders, p. 522, 1979.

• 3) 和田義郎:ガラクトース血症. 小児科診療, 41:87, 1978.

• 4) Koch, R., Donnell, G. N., Wenz, E., Fishler, K., Graliker, B. V., and Bergren, W. R.:Galactosemia. In Kelley (ed):Practice of pediatrics. 1, 42, Harper and Row, 1978.

• 5) Donnell, G. N. and Bergren, W. R.:Galactosemia, In Bergsma, D. (ed):Birth defects compendium. 2nd ed., National Foundation-Marchof Dimes. New York, p. 455, 1979.

• 6) Fenson, A. H., Benson, P. F., and Blunt, S.:Prenatal diagnosis of galactosemia. Br. Med. J., 4:386, 1974.

• 7) Tedesco, T. A., Miller, K. L., Rawnsley, B. E., Mennuti, M. T., Spielman, R. S., and Mellman, W. J.:Human erythrocyte galactokinase and galactose-1-phosphate uridyltransferase:A population survey. Am. J. Hum. Genet., 27:737, 1975.

• 8)Beutler, E., Baluda, M. C., Sturgeon, P, and Day, R. W.:A new genetic abnormality resulting in galactose-1-phosphate uridyl transferase deficiency. Lancet, 1:353, 1965.

• 9) Mellman, W. J., Tedesco, T. A., and Feigl, P.:Estimation of the gene frequency of the Duarte variant of galactose-1-phosphate uridyl transferase. Ann. Hum. Genet. 32:1, 1968.

• 10) 代謝異常スクリーニング研究会:代謝異常スクリーニング研究会会報, 第4号, p. 116, 昭和54年.

• 11) Tedesco, T. A., Morrow, G., and Mellman, W. J.:Normal pregnancyand childbirth in a galactosemic woman. J. Pediatr. 81:1159, 1972.

• 12) Roe, T. F., Hallat, J. G., Donnell, G. N., and Ng, W. G.:Childbearingby a galactosemic woman. J. Pediatr. 78:1026, 1971.

• 13) Levy, H. L., Sepe, S. J., Walton, D. S., Shih, V. E., Hammersen, G., Houghton, S., and Beutler, E.:Galactose-1-phosphate uridyl transferase deficiency due to Duarte/galactosemia combind variation:Clinical and bichemical studies. J. Pediatr. 92:390, 1978.

• 14) Dahlqvist, A. Test paper for galactose in urine. Scand. J. Clin. & Lab. Invest. 22:87, 1968.
  pubmed

• 15) 長谷川政二, 中谷比呂樹, 中村信夫, 稲葉博, 池内順子, 福渡靖:わが国における先天性代謝異常症及び先天性甲状腺機能低下症 (クレチン症) のマス・スクリーニングの実施状況. 小児科診療, 44:1087, 1981.

• 16) 多田啓也, 大浦敏明, 北川照男, 松田一郎, 川村正彦, 和田義郎:先天性代謝異常症の治療指針-新生児マス・スクリーニングの対象疾患-日本小児科学会雑誌, 81:840. 1977.

• 17) 特殊ミルク共同開発事業:特殊ミルク情報 (先天性代謝異常症の治療) No. 2, 1981.

• 18) 多田啓也:昭和51年度小児慢性疾患に関する臨床的研究報告書. 厚生省心身障害研究小児慢性疾患研究班, 1977.

• 19) Komrower, G. M., and Lee, D. H.:Long term follow-up of galactosemia. Arch. Dis. Child. 45:367, 1970.

• 20) Fishler, K., Donnell, G. N., Bergren, W. R., and Koch, R.:Intellectual and personality developement in children with galactosemia. Pediatrics, 50:412, 1972.

• 21) Gitzelmann, R.:Deficiency of erythrocyte galactokinase in a patient with galactose diabetes. Lancet 2:670, 1965.

• 22) Gitzelmann, R.:Hereditary galactokinase deficiency, a newly recognizedcause of juvenile cataracts. Pediatr. Res. 1:14, 1967.

• 23) Monteleone, J. A., Beutler, E., Monteleone, R. L., Utz, C. L., and Casey, E. C.:Cataracts, galactosemia in hypergalctosemia due to galactokinase deficiency. Am. J. Med. 50:403, 1971.

• 24) Litman, N., Kante A., and Finberg, L.:Galactokinase deficiency presenting as pseudotumor cerebri. J. Pediatr. 86:410, 1975.

• 25) Beutler, E., Krill, A., Comings, D., and Trindad, F:Galactokinase deficiency;An important cause of familial cataracts in children and young adults. J. Lab. Clin. Med. 76:1006, 1970.

• 26) Mayes, J. S., and Guthrie, R.:Detection of heterozygotes for galactokinase deficiency in a human population. Biochem. Genet. 2:219, 1968.

• 27) Thalhammer, O., Gitzelmann, R., and Pantlitscho, M.:Hypergalactosemia and galactosuria due to galactokinase deficiency in a newborn. Pediatrics, 42:441, 1968.

• 28) Tedesco, T. A., Miller, K. L., Rawnsley, B. E., Mennuti, M. T., Spielman, R. S., and Mellman, W. J.:Human erythrocyte galactokinase and galactose-1-phosphate uridyltransferase. A population survey. Am. J. Hum. Genet. 27:737, 1975.

• 29) Gitzelmann, R., Wells, H. J., and Segal, S.:Galactose metabolism in apatient with hereditary galactokinase deficiency. Europ. J. Clin. Invest. 4:79, 1974.

• 30) Gitzelmann, R.:Deficiency of uridine diphosphate galactose-4-epimerasein blood cells of an apparently healthy. infant. Helv. Paediatr. Acta. 27:125, 1972.
  pubmed

• 31) Mitchell, B., Haigis, E., Steinmann, B., and Gitzelman. R.:Reversal of UDP-galactose-4-epimerase deficiency of human leukocytes in culture. Proc. Natl. Acad Sci. USA, 72:5026, 1975.

8. ビタミン欠乏・過剰・依存症

P.258 掲載の参考文献

• 1) 若生, 泉, 多田編著:現代の小児科学, 金原出版, 東京, 昭和54年.

• 2) 若生編:小児栄養のすべて, 小児科 Mook, 金原出版, 東京, 昭和56年.

• 3) A. von Muralt:Protein-Calorie-Malnutrition. A Nestle Foundation Symposium. Springer Verlag. Berlin, Heidelberg., New York, 1969.

• 4) D. B. Jelliffe:The Assessment of the Nutritional Status of the Community. World Health Organization, Geneva, 1966.

• 5) Ditto:Infant Nutrition in the Substropics and Tropics. World Health Organization, Geneva, 1968.

• 6) 阿部知子:大豆乳とビタミンK欠乏症. 小児科, 2:125-132, 昭和56年.

• 7) 麥島他:乳児特発性ビタミン欠乏症の臨床および凝固学的検討. 小児科, 2:199-205, 昭和56年.

• 8) 松坂哲鷹:乳児ビタミンK欠乏症. 日児誌, 85:658-664, 昭和56年.