Revisão Revisado por pares

Current Status of Hyperammonemic Syndromes

1982; Lippincott Williams & Wilkins; Volume: 2; Issue: 4 Linguagem: Inglês

10.1002/hep.1840020417

ISSN

1527-3350

Autores

David B. Flannery, Edward Y. Hsia, Barry Wolf,

Tópico(s)

Pediatric Hepatobiliary Diseases and Treatments

Resumo

HepatologyVolume 2, Issue 4 p. 495S-506S ArticleFree Access Current Status of Hyperammonemic Syndromes† David B. Flannery, David B. Flannery Departments of Human Genetics and Pediatrics, Children's Medical Center, Medical College of Virginia, Richmond, Virginia 23298 and Departments of Genetics and Pediatrics, John A. Burns School of Medicine, University of Hawaii at Manoa, Honolulu, Hawaii 96826Search for more papers by this authorY. Edward Hsia, Y. Edward Hsia Departments of Human Genetics and Pediatrics, Children's Medical Center, Medical College of Virginia, Richmond, Virginia 23298 and Departments of Genetics and Pediatrics, John A. Burns School of Medicine, University of Hawaii at Manoa, Honolulu, Hawaii 96826Search for more papers by this authorBarry Wolf, Corresponding Author Barry Wolf Departments of Human Genetics and Pediatrics, Children's Medical Center, Medical College of Virginia, Richmond, Virginia 23298 and Departments of Genetics and Pediatrics, John A. Burns School of Medicine, University of Hawaii at Manoa, Honolulu, Hawaii 96826 Dr. Wolf is the recipient of NIH Research Career Development Award AM 00677.Barry Wolf, M.D., Ph.D., Department of Human Genetics, Medical College of Virginia, P.O. Box 33, MCV Station, Richmond, Virginia 23298.===Search for more papers by this author David B. Flannery, David B. Flannery Departments of Human Genetics and Pediatrics, Children's Medical Center, Medical College of Virginia, Richmond, Virginia 23298 and Departments of Genetics and Pediatrics, John A. Burns School of Medicine, University of Hawaii at Manoa, Honolulu, Hawaii 96826Search for more papers by this authorY. Edward Hsia, Y. Edward Hsia Departments of Human Genetics and Pediatrics, Children's Medical Center, Medical College of Virginia, Richmond, Virginia 23298 and Departments of Genetics and Pediatrics, John A. Burns School of Medicine, University of Hawaii at Manoa, Honolulu, Hawaii 96826Search for more papers by this authorBarry Wolf, Corresponding Author Barry Wolf Departments of Human Genetics and Pediatrics, Children's Medical Center, Medical College of Virginia, Richmond, Virginia 23298 and Departments of Genetics and Pediatrics, John A. Burns School of Medicine, University of Hawaii at Manoa, Honolulu, Hawaii 96826 Dr. Wolf is the recipient of NIH Research Career Development Award AM 00677.Barry Wolf, M.D., Ph.D., Department of Human Genetics, Medical College of Virginia, P.O. Box 33, MCV Station, Richmond, Virginia 23298.===Search for more papers by this author First published: July/August 1982 https://doi.org/10.1002/hep.1840020417Citations: 61 † This article is No. 156 from the Department of Human Genetics at the Medical College of Virginia, Richmond, Virginia. AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinkedInRedditWechat References 1 Lowenstein JM. Ammonia production in muscle and other tissues: the purine nucleotide cycle. Physiol Rev 1972; 52. 382– 414. 2 Krebs HA, Hems R, Lund P. Some regulatory mechanisms in the synthesis of urea in mammalian liver. Adv Enzyme Regul 1973; 11: 361– 377. 3 Hsia YE. Inherited hyperammonemic syndromes. Gastroenterology 1974; 67: 347– 374. 4 S Grisolia, R Baguena, F Major (eds.). In: The urea cycle. New York: J. Wiley and Sons, 1976. 5 Hoyumpa AM, Desmond PV, Avant GR, et al. Hepatic encephalopathy. Gastroenterology 1979; 76: 184– 195. 6 Shih VE. Urea cycle disorders and other congenital hyperammonemias. In: JB Stanbury, JB Wyngaarden, DS Fredrickson, eds. The metabolic basis of inherited disease, 4th ed. New York: McGraw-Hill, 1978: 362– 386. 7 Urea cycle symposium. Pediatrics 1981; 68: 271– 297, 446–462. 8 Wooj J, Treuting JJ, Cannon DC. Metabolic intermediates and inorganic ions. In: JB Henry, eds. Clinical diagnosis and management by laboratory methods, 16th ed. Philadelphia: W. B. Saunders and Co., 1979: 269. 9 Batshaw M, Bruisilow S, Walser M. Treatment of carbamyl phosphate synthetase deficiency with keto analogues of essential amino acids. N Engl J Med 1975; 292: 1085– 1090. 10 Humphries BA, Melnychuk M, Donegan EJ, et al. Automated enzymatic assay for plasma. Clin Chem 1979; 25: 26– 30. 11 Li PK, Shull BC. Fixed-time kinetic assay of plasma ammonia, with NADPH as cofactor, with a centrifugal analyzer. Clin Chem 1979; 25: 611– 613. 12 Nazar BL, Schoolwerth AC. An improved microfluorometric enzymatic assay for the determination of ammonia. Anal Biochem 1979; 95: 507– 514. 13 Kalb VF, Donahue TJ, Corrigan MG, et al. A new and specific assay for ammonia and glutamine sensitive to 100 pmol. Anal Biochem 1978; 90: 47– 57. 14 Cahill GF. Nitrogen versatility in bats, bears and man. N Engl J Med 1974; 290: 686– 687. 15 Schultz V, Lowenstein JM. Purine nucleotide cycle: evidence for the occurrence of the cycle in brain. J Biol Chem 1976; 251: 485– 492. 16 Stewart PM, Walser M. Short term regulation of ureagenesis. J Biol Chem 1980; 255: 5270– 5280. 17 Snodgrass PJ. Biochemical aspects of urea cycle disorders. Pediatrics 1981; 68: 273– 283. 18 Shore GC, Carignan P, Raymond Y. In vitro synthesis of a putative precursor to the mitochondrial enzyme, carbamyl phosphate synthetase. J Biol Chem 1979; 254: 3141– 3144. 19 Mori M, Miura S, Tatibani M, et al. Processing of a putative precursor of rat liver ornithine trancarbamylase, a mitochondrial matrix enzyme. J Biochem 1980; 88: 1829– 1836. 20 Conboy JC, Kalousek F, Rosenberg LE. In vitro synthesis of a putative precursor of mitochondrial ornithine transcarbamylase. Proc Natl Acad Sci USA 1979; 76: 5724– 5727. 21 Mori M, Miura S, Tatibani M, et al. Characterization of a protease apparently involved in processing of pre-ornithine transcarbamylase of rat liver. Proc Natl Acad Sci USA 1980; 77: 7044– 7048. 22 Colombo JP. Some regulatory aspects of urea synthesis. Enzyme 1981; 26: 225– 232. 23 Shigesada K, Tatibana M. Role of acetylglutamate in ureotelism. I. Occurrence and biosynthesis of acetylglutamate in mouse and rat tissues. J Biol Chem 1971; 246: 5588– 5595. 24 Shigesada K, Aoyagi K, Tatibana M. Role of acetylglutamate in ureotelism. Variations in acetyl glutamate level and its possible significance in control of urea synthesis in mammalian liver. Eur J Biochem 1978; 85: 385– 391. 25 Shigesada K, Tatibana M. Enzymatic synthesis of acetylglutamate by mammalian liver preparations and its stimulation by arginine. Biochem Biophys Res Commun 1971; 44: 1117– 1124. 26 Cathelineau L, Rabier D, Petit F, et al. Physiological and hormonal variations of acetylglutamate and citrullinogenesis in rat liver mitochondria. Enzyme 1981; 26: 245– 253. 27 Shih VE. Regulation of ornithine metabolism. Enzyme 1981; 26: 254– 258. 28 Rochovansky O. On the role of substrate and GTP in the regulation of argininosuccinate synthetase. J Biol Chem 1975; 250: 7225– 7230. 29 Rochovansky O, Kodowaki H, Ratner S. Biosynthesis of urea: molecular and regulator properties of crystalline argininosuccinate synthetase. J Biol Chem 1977; 252: 5287– 5294. 30 Saheki T, Tsuda M, Takada S, et al. Role of argininosuccinate synthetase in the regulation of urea synthesis in the rat an argininosuccinate synthetase-associated metabolic disorder in man. Adv Enzyme Regul 1980; 18: 221– 238. 31 Zieve L. The mechanism of hepatic coma. Hepatology 1981; 1: 360– 365. 32 Seglen PO, Reith A. Ammonia inhibits protein secretion in isolated rat hepatocytes. Biochim Biophys Acta 1977; 496: 29– 35. 33 Fisher JE. Portosystemic encephalopathy. In: R Wright, KGMM Alberti, S Karran, et al., eds. Liver and biliary disease. Philadelphia: W. B. Saunders, 1979: 973– 1001. 34 Conn HO, Lieberthal MM. The hepatic coma syndromes and lactulose. Baltimore: The Williams and Wilkins Co., 1979. 35 Anonymous. Biochemical monitoring of encephalopathy in liver failure. Lancet 1980; 2: 783– 784. 36 James JH, Jeppson B, Zipara V, et al. Hyperammonaemia, plasma amino acid imbalance and blood-brain amino acid transport: a unified theory of portal-systemic encephalopathy. Lancet 1979; 2: 772– 775. 37 McClain CJ, Zieve L, Dotzaki WM, et al. Blood methanethiol in alcoholic liver disease with and without hepatic encephalopathy. Gut 1980; 21: 318– 323. 38 Shafer DF, Jones EA. Hepatic encephalopathy and the gamma-aminobutyric acid neurotransmitter system. Lancet 1982; 1: 18– 20. 39 Oldendorf WH, Szabo J. Amino acid assignment to one of three blood-brain barrier amino acid carriers. Am J Physiol 1976; 230: 94– 98. 40 Kindt GW, Brock M, Altenau LL, et al. Blood/brain barrier and brain edema in ammonia intoxication. Lancet 1977; 1: 201. 41 Cangiano C, Cascino A, Fiaccadori F, et al. Is the blood-brain barrier really intact in portal-system encephalopathy? Lancet 1981; 1: 1367. 42 Hawkins RA, Mans AM, Biebuyck JF. Blood-brain barrier during portal-systemic encephalopathy. Lancet 1981; 2: 302. 43 Partin JC, Schubert WK, Partin JS. Mitochondrial ulstrastructure in Reye's syndrome (encephalopathy and fatty degeneration of the viscera). N Engl J Med 1971; 285: 1339– 1343. 44 Tang TT, Siegesmund KA, Sedmak GV, et al. Reye's syndrome: a correlated electron-microscopic, viral, and biochemical observation. J Am Med Assoc 1975; 232: 1339– 1346. 45 Haust MD, Gordon BA. Ultrastructural changes in the mitochondria in disorders in ornithine metabolism. Pediatr Res 1980; 14: 1411. 46 Haust MD, Gatfield PD, Gordon BA. Ultrastructure of hepatic mitochondria in a child with hyperornithinemia, hyperammonemia, and homocitrullinuria. Human Pathol 1981; 12: 212– 222. 47 Shapiro JM, Schaffner F, Tallan HH, et al. Mitochondrial abnormalities of liver in primary ornithine transcarbamylase deficiency. Pediatr Res 1980; 14: 735– 739. 48 LaBrecque DR, Latham PS, Reily CA, et al. Heritable urea cycle enzyme deficiency: liver disease in sixteen patients. J Pediatr 1979; 94: 580– 587. 49 Bachmann C, Krahenbuhl S, Columbo JP, et al. N-acetylgluta-mate synthetase deficiency: a disorder of ammonia detoxication. N Engl J Med 1981; 304: 543. 50 Rubio V, Grisolia S. Treating urea cycle defects. Nature 1981; 292: 496. 51 Farriaux JP, Ponte C, Pollitt RJ, et al. Carbamyl-phosphate synthetase deficiency with neonatal onset of symptoms. Acta Paediatr Scand 1977; 66: 529– 534. 52 Mantagos S, Tsagaraki S, Burgess EA, et al. Neonatal hyperam-monaemia with complete absence of carbamyl-phosphate synthetase activity. Arch Dis Child 1978; 53: 230– 234. 53 McReynolds JW, Crowley B, Mahoney MJ, et al. Autosomal recessive inheritance of human mitochondrial carbamyl phosphate synthetase deficiency. Am J Hum Genet 1981; 33: 345– 353. 54 Cathelineau L, Saudubray J-M, Polonovski C. Heterogeneous mutations of the structural gene of human ornithine carbamyl-transferase as observed in five personal cases. Enzyme 1974; 18: 103– 113. 55 Ricciuti F, Gelehrter TD, Rosenberg LE. X-chromosome inacti-vation in human liver: confirmation of X-linkage of ornithine transcarbamylase. Am J Hum Genet 1976; 28: 332– 338. 56 Yudkoff M, Yang W, Snodgrass PJ, et al. Ornithine transcarbamylase deficiency in a boy with normal development. J Pediatr 1980; 96: 441– 443. 57 Kennaway NG, Harwood PJ, Ramberg DA, et al. Citrullinemia. enzymatic evidence for genetic heterogeneity. Pediatr Res 1975; 9: 554– 558. 58 Imanishi K, Okajima T, Ideta T, et al. Juvenile hepatocerebral disease with citrullinemia. Clin Neurol 1976; 16: 389– 397. 59 Billmeier GJ, Molinary SV, Wilroy S, et al. Argininosuccinic aciduria: investigation of an affected family. J Pediatr 1974; 84: 85– 89. 60 Cederbaum SD, Shaw KNF, Spector EB, et al. Hyperargininemia with arginase deficiency. Pediatr Res 1979; 13: 827– 833. 61 Qureshi IA, Letarte J, Duellet R, et al. Ammonia metabolism in a family affected by hyperargininemia. Diabet Metab 1981; 7: 5– 11. 62 Fell V, Pollitt RJ, Sampson GA, et al. Ornithinemia, hyperammonemia and homocitrullinuria. Am J Dis Child 1974; 127: 752– 756. 63 Gatfield PD, Taller E, Wolfe DM, et al. Hyperornithemia, hyperammonemia and homocitrullinuria with decreased carbamyl phosphate synthetase I activity. Pediatr Res 1975; 9: 488– 497. 64 Shih VE, Mandell R, Herzfeld A. Defective ornithine metabolism in the syndrome of hyperornithinaemia, hyperammonaemia and homocitrullinuria. J Inherit Metabol Dis 1981; 4: 95– 96. 65 Colombo JP, Richterich R, Donath A, et al. Congenital lysine intolerance with periodic ammonia intoxication. Lancet 1964; 1: 1014– 1015. 66 Burgi W, Richterich R, Columbo JP. L-lysine dehydrogenase deficiency in a patient with congenital lysine intolerance. Nature 1966; 211: 854– 855. 67 Colombo JP, Burgi W, Richterich R, et al. Congenital lysine intolerance with periodic ammonia intoxication: A defect in L-lysine degradation metabolism. Nature 1967; 16: 910– 925. 68 Ghadimi H. The hyperlysinemias. In: JB Stanbury, JB Wyngaaden, DS Fredrikson, eds. The metabolic basis of inherited disease. New York: McGraw-Hill, 1978. 69 Simell O, Perheentupa J, Rapola J, et al. Lysinuric protein intolerance. Am J Med 1975; 59: 229– 240. 70 Kekomaki M. Intestinal absorption of L-arginine and L-lysine in familial protein intolerance. Ann Paediatr Fenn 1968; 14: 18– 22. 71 Simell O, Perheentupa J. Renal handling of diamino acids in lysinuric protein intolerance. J Clin Invest 1974; 54: 9– 17. 72 Simell O. Diamino acid transport into granulocytes and liver slices of patients with lysinuric protein intolerance. Pediatr Res 1975; 9: 504– 508. 73 Rajantie J, Simell O, Perheentupa J. Basolateral-membrane transport defect for lysine in lysinuric protein intolerance. Lancet 1980; 1: 1219– 1221. 74 Oyanagi K, Sogawa H, Minami R, et al. The mechanism of hyperammonemia in congenital lysinuria. J Pediatr 1979; 94: 255– 257. 75 Rajantie J. Orotic aciduria in lysinuric protein intolerance: dependence on the urea cycle intermediates. Pediatr Res 1981; 15: 115– 119. 76 Wolf B, Hsia YE, Tanaka K, et al. Correlation between serum propionate and blood ammonia concentrations in propionic acidemia. J Pediatr 1978; 93: 471– 473. 77 Wolf B, Hsia YE, Sweetman L, et al. Propionic acidemia: a clinical update. J Pediatr 1981; 99: 835– 846. 78 Coude FX, Ogier H, Grimber G, et al. Correlation between blood ammonia concentration and organic acid accumulation in isovaleric and propionic acidemia. Pediatrics 1982; 69: 115– 117. 79 Packman S, Mahoney MJ, Tanaka K, et al. Severe hyperammonemia in a newborn infant with methylmalonyl-CoA mutase deficiency. J Pediatr 1978; 92: 769– 771. 80 Cathelineau L, Briand P, Ogier H, et al. Occurrence of hyperammonemia in the course of 17 cases of methylmalonic acidemia. J Pediatr 1981; 99: 279– 280. 81 Sweetman L. Two forms of biotin-responsive multiple carboxylase deficiency. J Inherit Metab Dis 1981; 4: 53– 54. 82 Wolf B, Hsia YE, Sweetman L, et al. Multiple carboxylase deficiency: clinical and biochemical improvement following neonatal biotin treatment. Pediatrics 1981; 68: 113– 118. 83 Sweetman L, Nyhan WL, Trauner D, et al. Glutaric aciduria type II. J Pediatr 1980; 96: 1020– 1026. 84 Mantagos S, Genel M, Tanaka K. Ethylmalonicadipic aciduria: in vivo and in vitro studies indicating deficiency of activities of multiple acyl-CoA dehydrogenases. J Clin Invest 1979; 64: 1580– 1589. 85 Tanaka K, Mantagoss, Genel M, et al. New defect in fatty-acid metabolism with hypoglycaemia organic aciduria. Lancet 1977; 2: 986– 987. 86 Keating JP, Fegin RD, Tenenbaum SM, et al. Hyperglycinemia with ketosis due to a defect in isoleucine metabolism: a preliminary report. Pediatrics 1972; 50: 890– 895. 87 Hillman RE, Keating JP. Beta-ketothiolase deficiency as a cause of the "ketotic hyperglycinemia syndrome". Pediatrics 1974; 52: 221– 225. 88 Kirkman HN, Kiesel JL. Congenital hyperammonemia. Pediatr Res 1969; 3: 358. 89 Harris DJ, Yang BIY, Wolf B, et al. Dysautonomia in an infant with secondary hyperammonemia due to propionyl coenzyme-A carboxylase deficiency. Pediatrics 1980; 65: 107– 110. 90 Rosenberg LE. Vitamin-responsive inherited metabolic disorders. In: H Harris, K Hirshhorn, eds. Advances in human genetics, Vol 6. New York: Plenum Publishing Corp., 1976: 1– 74. 91 Glasgow AM, Chase HP. Effect of propionic acid on fatty acid oxidation and ureagenesis. Pediatr Res 1976; 10: 683– 686. 92 Stewart PM, Walser M. Failure of the normal ureagenic response to amino acids in organic acid-loaded rats. J Clin Invest 1980; 66: 484– 492. 93 Bachmann C. Urea cycle. In: WL Nyhan, ed. Heritable disorders of amino acid metabolism. New York: John Wiley & Sons, Inc., 1974: 361– 386. 94 Cathelineau LF, Petit FP, Coude FX, et al. Effect of propionate and pyruvate on citrulline synthesis and ATP content in rat liver mitochondria. Biochem Biophys Res Commun 1979; 90: 327– 332. 95 Rabier D, Cathelineau L, Braind P, et al. Propionate and succinate effects on acetyl glutamate biosynthesis by rat mitochondria. Biochem Biophys Res Commun 1979; 91: 456– 460. 96 Coude FX, Sweetman L, Nyhan WL. Inhibition by propionyl-coenzyme A of N-acetylglutamate synthetase in rat liver mitochondria. J Clin Invest 1979; 64: 1544– 1551. 97 Grisolia S, Cohen PP. Catalytic role of glutamate derivatives in citrulline biosynthesis. J Biol Chem 1953; 204: 753– 757. 98 Walser M, Stewart PM. Organic acidaemia and hyperammonaemia: review. J Inherit Metab Dis 1981; 4: 177– 182. 99 Halperin ML, Schiller CM, Fritz IB. The inhibition by methylmalonic acid of malate transport by the dicarboxylate carrier in rat liver mitochondria. J Clin Invest 1971; 2276– 2282. 100 Bartlett K, Gompertz D. The specificity of glycine-N-acylase and acylglycine excretion in the organicacidaemias. Biochem Med 1974; 10: 15– 23. 101 Schenker S, Breen KJ, Hoyumpa AM. Hepatic encephalopathy: current status. Gastroenterology 1974; 66: 121– 151. 102 Ballard RA, Vinocur B, Reynolds JW, et al. Transient hyperammonemia of the preterm infant. N Engl J Med 1978; 299: 920– 935. 103 Rosenthal P, Vinocur B. Neonatal hyperammonemia. J Pediatr 1979; 94: 847– 848. 104 Beddis IR, Hughes EA, Rosser E, et al. Plasma ammonia levels in newborn infants admitted to an intensive care baby unit. Arch Dis Child 1980; 55: 516– 520. 105 Le Guennec J-C, Qureshi IA, Bard H, et al. Transient hyperammonemia in an early preterm infant. J Pediatr 1980; 96: 470– 472. 106 Goldberg RN, Cabal LA, Sinatra FR, et al. Hyperammonemia associated with perinatal asphyxia. Pediatrics 1979; 64: 336– 341. 107 Procianoy RS. Hyperammonemia and perinatal asphyxia. Pediatrics 1981; 67: 578– 579. 108 Batshaw ML, Brusilow SW. Asymptomatic hyperammonemia in low birthweight infants. Pediatr Res 1978; 12: 221– 224. 109 Reye RDK, Morgan G, Baral J. Encephalopathy and fatty degeneration of the viscera: a disease entity in childhood. Lancet 1963; 2: 749– 752. 110 De Vivo DC. Reye syndrome: a metabolic response to an acute mitochondrial insult?. Neurology 1978; 28: 105– 108. 111 Thaler MM. Pathogenesis of Reye's syndrome: a working hypothesis. Pediatrics 1975; 56: 1081– 1084. 112 DeLong GR, Glick TH. Encephalopathy of Reye's syndrome: a review of pathogenetic hypotheses. Pediatrics 1982; 69: 53– 63. 113 Engle WD, Baublis JV, Duff TE, et al. Reye's syndrome in Michigan. In: JFS Crocker, ed. Reye's syndrome II. New York: Grune & Stratton, 1979: 195– 213. 114 Corey L, Rubin RJ, Hattwick AW, et al. Reye syndrome: clinical progression and evaluation of therapy. Pediatrics 1977; 60: 708– 714. 115 Volk DM. Reye syndrome: an update for the practicing physician. Clin Pediatr 1981; 20: 505– 511. 116 Kang ES, Gerald PS. Hyperammonemia and Reye's syndrome. N Engl J Med 1972; 286: 1216– 1217. 117 Snodgrass PJ, DeLong GR. Urea-cycle ensyme deficiencies and an increased nitrogen load producing hyperammonemia in Reye's syndrome. N Engl J Med 1976; 294: 855– 860. 118 Brown T, Hug G, Lansky L, et al. Transiently reduced activity of carbamyl phosphate synthetase and ornithine transcarbamylase in liver of children with Reye's syndrome. N Engl J Med 1976; 294: 861– 867. 119 Aprille JR, Austin J, Costello CE, et al. Identification of the Reye's syndrome "serum factor". Biochem Biophys Res Comm 1980; 94: 381– 389. 120 Pichichero ME, McCabe ERB. Recurrent Reye's syndrome. Am J Dis Child 1978; 132: 1097– 1099. 121 Fox DW, Hart MC, Bergeson PS, et al. Pyrrolizidine (Senecio) intoxication mimicking Reye's syndrome. J Pediatr 1978; 93: 980– 982. 122 Tanaka K, Kean EA, Johnson B. Jamaican vomiting sickness: Biochemical investigation of two cases. N Engl J Med 1976; 295: 461– 467. 123 Heick HMC, Shipman RT, Norman MG, et al. Reye-like syndrome associated with use of insect repellent in a presumed heterozygote for ornithine carbamoyl transferase deficiency. J Pediatr 1980; 97: 471– 473. 124 Cox KL, Cannon RA. Recurrent Reye's syndrome without liver lipid deposition. Hospital Practice 1981; 16: 45– 51. 125 Olson LC, Bourgeois CH, Keschamras N, et al. Encephalopathy and fatty degeneration of the viscera in three Thai children. Am J Dis Child 1970; 120: 1– 2. 126 Nelson DB, Kimbrough R, Landrigan PS, et al. Aflatoxin and Reye's syndrome: a case control study. Pediatrics 1980; 66: 865– 869. 127 Gerber N, Dickinson RG, Harland RC, et al. Reye-like syndrome associated with valproic acid therapy. J Pediatr 1979; 95: 142– 144. 128 Young RSK, Bergman I, Gang DL, et al. Fatal Reye-like syndrome associated with valproic acid. Ann Neurol 1980; 7: 389. 129 Coulter DL, Allen RJ. Secondary hyperammonemia: a possible mechanism of valproate encephalopathy. Lancet 1980; 1: 1310– 1311. 130 Chapoy PR, Angelini C, Brown WJ, et al. Systemic carnitine deficiency—A treatable inherited lipid-storage disease presenting as Reye's syndrome. N Engl J Med 1980; 303: 1389– 1394. 131 Glasgow AM, Eng G, Engel G. Systemic carnitine deficiency simulating recurrent Reye's syndrome. J Pediatr 1980; 96: 889– 891. 132 McGarry JD, Foster DW. Systemic carnitine deficiency. N Engl J Med 1980; 303: 1413– 1451. 133 Goodman SI, Markey SP. Diagnosis of organic acidemia by gas chromatography-mass spectrometry. New York: Alan R Liss, Inc. 1981. 134 Batshaw ML, Thomas GH, Brusilow SW. New approaches to the diagnosis and treatment of inborn errors of urea synthesis. Pediatrics 1981; 68: 290– 297. 135 Snyderman SE, Sansarico C, Phansalker SV, et al. The therapy of hyperammonemia due to ornithine transcarbamylase deficiency in a male neonate. Pediatrics 1975; 56: 65– 73. 136 Thoene J, Batshaw M, Spector E, et al. Neonatal citrullinemia: treatment with ketoanalogues of essential amino acids. J Pediatr 1977; 90: 218– 224. 137 McReynolds JM, Mantagos S, Brusilow SW, et al. Treatment of complete ornithine transcarbamylase deficiency with nitrogen-free analogues of essential amino acids. J Pediatr 1978; 93: 421– 427. 138 Summerskill WHJ, Wolpert E. Ammonia metabolism in the gut. Am J Clin Nutr 1970; 23: 633– 639. 139 Conn HO, Leevy CM, Vlahcevic ZR, et al. Comparison of lactulose and neomycin in the treatment of chronic portal-systemic encephalopathy. Gastroenterology 1977; 72: 573– 583. 140 Schwarz KB, Karl IE, Alpers DH. Effect of intralumenal cation-exchange resin on excretion of ammonia in rat ileum. Pediatr Res 1981; 15: 1473– 1477. 141 Batshaw ML, Brusilow SW. Treatment of hyperammonemia coma caused by inborn errors of urea synthesis. J Pediatr 1980; 97: 893– 900. 142 Snyderman SE. Clinical aspects of disorders of the urea cycle. Pediatrics 1981; 68: 284. 143 Donn SM, Swartz RD, Thoene JC. Comparison of exchange transfusion, peritoneal dialysis, and hemodialysis for the treatment of hyperammonemia in an anuric newborn infant. J Pediatr 1979; 95: 67– 70. 144 Wiegand C, Thompson T, Bock GH, et al. The management of life-threatening hyperammonemia: a comparison of several therapeutic modalities. J Pediatr 1980; 96: 142– 144. 145 Kiley JE, Pender JC, Welch HF, et al. Ammonia intoxication treated by hemodialysis. N Engl J Med 1958; 259: 1156– 1161. 146 Brusilow SW, Valle DL, Batshaw ML. New pathways of nitrogen excretion in inborn errors of urea synthesis. Lancet 1979; 2: 452– 454. 147 Batshaw ML, Painter MJ, Sproul GT, et al. Therapy of urea cycle enzymopathies: three case studies. Johns Hopkins Med J 1981; 148: 34– 40. 148 Batshaw ML, Thomas GH, Brusilow SW. New approaches to the diagnosis and treatment of inborn errors of urea synthesis. Pediatrics 1981; 68: 290– 297. 149 Brusilow SW, Batshaw ML. Arginine therapy of arginosuccinase deficiency. Lancet 1979; 1: 124– 127. 150 Brusilow S, Tinker J, Batshaw ML. Amino acid acylation: a mechanism of nitrogen excretion in inborn errors of urea synthesis. Science 1980; 207: 659– 661. Citing Literature Volume2, Issue4July/August 1982Pages 495S-506S ReferencesRelatedInformation

Referência(s)
Altmetric
PlumX