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Other Common/Treatable Childhood Genetic Liver Disorders

  • Janna C. Collins
Part of the Current Clinical Practice book series (CCP)

Abstract

This chapter describes several specific genetic disorders affecting the liver that are important for the primary care physician because the disease can be diagnosed when a parent or other close relative is found to have it or the disease is treatable and poses clinical challenges throughout the patient’s life. These diseases include cystic fibrosis, galactosemia, glycogen storage disease (Types I, III, VI, and IX), and ornithine transcarbamylase deficiency. Other important inheritable liver disorders are discussed in separate chapters.

Keywords

Cystic Fibrosis Cystic Fibrosis Transmembrane Conductance Regulator Transjugular Intrahepatic Portosystemic Shunt Urea Cycle Glycogen Storage Disease 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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References

  1. 1.
    Welsh MJ, Tsui LC, Boat TF, Beaudet AL. Cystic Fibrosis. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease. 7th ed. New York: McGraw-Hill 1995; 3799–3878.Google Scholar
  2. 2.
    di Sant’ Agnese PA, Blanc WA. A distinctive type of biliary cirrhosis of the liver associated with cystic fibrosis of the pancreas. Pediatrics 1956, 18:387–409. Shwachman H, Kowalski M, Khaw K. Cystic fibrosis: a new outlook:75 patients above 25 years of age. Medicine 1977; 56:129-149.Google Scholar
  3. 4.
    di Sant’Agnese PA, Davis PB. Cystic fibrosis in adults: 75 cases and a review of 232 cases in the literature. Am J Med 1979; 66:121–132.CrossRefGoogle Scholar
  4. 5.
    Feigelson J, Anagnostopoulos C, Poquet M, Pecau Y, Munck A, Navarro J. Liver cirrhosis in cystic fibrosis— therapeutic implications and long term follow up. Arch Dis Child 1993; 68:653–657.PubMedCrossRefGoogle Scholar
  5. 6.
    Colombo C, Apostolo MG, Ferrari M, Seia M, Genoni S, Giunta A, Sereni LP. Analysis of risk factors for the development of liver disease associated with cystic fibrosis. J. Pediatr 1994; 124:393–399.PubMedCrossRefGoogle Scholar
  6. 7.
    Vawter GF, Shwachman H. Cystic fibrosis in adults:an autopsy study. Pathol Ann 1979; 14:357–382.Google Scholar
  7. 8.
    Nagel RA, Westaby D, Javaid A, et al. Liver disease and bile duct abnormalities in adults with cystic fibrosis. Lancet 1989; 2:1422–1425.PubMedCrossRefGoogle Scholar
  8. 9.
    O’Brien S, Keogan M, Casey M, Duffy G, McErlean D, Fitzgerald MX, Hegarty JE. Biliary complications of cystic fibrosis. Gut 1992; 33:387–391.PubMedCrossRefGoogle Scholar
  9. 10.
    Waters DL, Dorney SF, Gruca MA, Martin HC, Howman-Giles R, Kan AK, DeSilva M, Gaskin KJ. Hepatobiliary disease in cystic fibrosis patients with pancreatic sufficiency. Hepatology 1995; 21:963–969.PubMedGoogle Scholar
  10. 11.
    Hayes FJ, O’Brien A, O’Brien C, Fitzgerald MX, McKenna MJ. Diabetes mellitus in an adult cystic fibrosis population. Irish Med J 1995; 88:102–104.Google Scholar
  11. 12.
    Lanog S, Thorsteinsson B, Lund-Andersen C, Nerup J, Schiotz PO, Koch C. Diabetes mellitus in Danish cystic fibrosis patients prevalence and late diabetic complications. Acta Paediatr 1994; 83:72–77.CrossRefGoogle Scholar
  12. 13.
    Andersen DH. Cystic fibrosis of the pancreas and its relationship to celiac disease. Am J Dis Child 1938; 56:344–399.Google Scholar
  13. 14.
    Smyth RL, Ashby D, O’Hea U, Burrows E, Lewis P, van Veizen D, Dodge JA. Fibrosing colonopathy in cystic fibrosis:results of a case-control study. Lancet 1995; 346:1247–1251.PubMedCrossRefGoogle Scholar
  14. 15.
    Fitz Simmons SC, Burkhart GA, Borowitz D, Grand RJ, Hammerstrom T, Durie PR, Lloyd-Still JD, Lowenfles AB. High-dose pancreatic-enzyme supplements and fibrosing colonopathy in children with cystic fibrosis. N Eng J Med 1997; 336:128–139.CrossRefGoogle Scholar
  15. 16.
    Gaffney K, Gibbons D, Keogh B, Fitzgerald MX. Amyloidosis complicating cystic fibrosis. Thorax 1993; 48:949–950.PubMedCrossRefGoogle Scholar
  16. 17.
    Alvarez-Sala R, Prados C, Sastre Marcos J, Garcia Rio F, Vicandi B, de Ramon A, Vil lamor J. Amyloid goiter and hypothyroidism secondary to cystic fibrosis. Postgrad Med J 1995; 71:307,308.PubMedCrossRefGoogle Scholar
  17. 18.
    Samuels MH, Thompson N, Leichty D, Ridgway EC. Amyloid goiter in cystic fibrosis. Thyroid 1995; 5:213–215.PubMedCrossRefGoogle Scholar
  18. 19.
    Grey AB, Ames RW, Matthews RD, Reid IR. Bone mineral density and body composition in adult patients with cystic fibrosis. Thorax 1993; 48:589–593.PubMedCrossRefGoogle Scholar
  19. 20.
    Bachrach LK, Loutit CW, Moss RB. Osteopenia in adults with cystic fibrosis. Am J Med 1994; 96:27–34.PubMedCrossRefGoogle Scholar
  20. 21.
    Cotting J, Lentze M, Reichman J. Effects of ursodeoxycholic acid treatment in nutrition and liver function in patients with cystic fibrosis and longstanding cholestasis. Gut 1990; 31:918–921.PubMedCrossRefGoogle Scholar
  21. 22.
    Colombo C, Castellani MR, Balistreri WF, Seregni E, Assaisso ML, Giunta A. Scintigraphic documentation of an improvement in hepatobiliary excretory function after treatment with ursodeoxycholic acid in patients with cystic fibrosis and associated liver disease. Hepatology 1992; 15:677–684.PubMedCrossRefGoogle Scholar
  22. 23.
    Colombo C, Crosignami A, Assaisso M, et al. Ursodeoxycholic acid therapy in cystic fibrosis-associated liver disease:a dose-response study. Hepatology 1992; 16:924–930.PubMedCrossRefGoogle Scholar
  23. 24.
    Colombo C, Bertolini E, Assaisso ML, Bettinardi N, Giunta A, Podda M. Failure of ursodeoxycholic acid to dissolve radiolucent gallstones in patients with cystic fibrosis. Acta Paediatr 1993; 82:562–565.PubMedCrossRefGoogle Scholar
  24. 25.
    Doershuk CF, Stern RC. Spontaneous bacterial peritonitis in cystic fibrosis. Gut 1994; 35:709–711.PubMedCrossRefGoogle Scholar
  25. 26.
    Kessler WR, Andersen DH. Heat prostration in fibrocystic disease of the pancreas and other conditions. Pediatr 1951,8:648–656.Google Scholar
  26. 27.
    Noble-Jamieson G, Valente J, Barnes ND, Friend PJ, Jamieson NV, Rasmussen A, Calne RY. Liver transplantation or hepatic cirrhosis in cystic fibrosis. Arch Dis Child 1994; 71:349–352.PubMedCrossRefGoogle Scholar
  27. 28.
    Stern RC, Mayes JT, Weber FL Jr, Blades EW, Schulak JA. Restoration of exocrine pancreatic function following pancreas-liver-kidney transplantation in a cystic fibrosis patient. Clin Transplant 1994; 8:1–4.PubMedGoogle Scholar
  28. 29.
    Mack DR, Traystman MD, Colombo JL, Sammut PH, Kaufman SS, Vanderhoof JA, Antonson DL, Markin RS, Shaw BW Jr, Langnas AN. Clinical denouement and mutation analysis of patients with cystic fibrosis undergoing liver transplantation for biliary cirrhosis. J Pediatr 1995; 127:881–887.PubMedCrossRefGoogle Scholar
  29. 30.
    Rosenfeld M, Davis R, FitzSimmons S, Pepe M, Ramsey B. Gender gap in cystic fibrosis mortality. Amer J Epidemiol 1997; 145:794–803.CrossRefGoogle Scholar
  30. 31.
    FitzSimmons SC. Cystic Fibrosis Foundation. Annual Data Report, Bethesda, MD, August 1997.Google Scholar
  31. 32.
    Cloney DL, Sutphen JL, Borowitz SM, Frierson H Jr. Crohn’s disease complicating cystic fibrosis. Southern Med J 1994; 87:81–83.PubMedCrossRefGoogle Scholar
  32. 33.
    Lloyd-Still JD. Crohn’s disease and cystic fibrosis. Dig Dis Sci 1994; 39:880–885.PubMedCrossRefGoogle Scholar
  33. 34.
    Abdul-Karim FW, King TA, Dahms BB, et al. Carcinoma of extrahepatic biliary system in an adult with cystic fibrosis. Gastroenterology 1982, 82:758–762.PubMedGoogle Scholar
  34. 35.
    Sheldon CD, Hodson ME, Carpenter LM, Swerdlow AJ. A cohort study of cystic fibrosis and malignancy. BrJ Cancer 1993; 68:1025–1028.CrossRefGoogle Scholar
  35. 36.
    Neglia JP, FitzSimmons SC, Maisonneuve P, Schoni MH, Schoni-Affolter F, Corey M, Lowenfels AB. The risk of cancer among patients with cystic fibrosis. N Engl J Med 1995; 332:494–499.PubMedCrossRefGoogle Scholar
  36. 37.
    Committee on Genetics. Newborn Screening Fact Sheets. Pediatr 1996;98:473–501.Google Scholar
  37. 38.
    Segal S, Berry GT. Disorders of galactose metabolism. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease. 7th ed. New York: McGraw-Hill 1995; 967–1000.Google Scholar
  38. 39.
    Mason HH, Turner, ME. Chronic galactosemia: report of case with studies on carbohydrates. Am J Dis Child 1935, 50:359–574.Google Scholar
  39. 40.
    Petry K, Greinix HT, Nudelman E, et al. Characterization of a novel biochemical abnormality in galactosemia:deficiency of glycolipids containing galactose or Nacetylgalactosamine and accumulation of precursors in brain and lymphocytes. Biochem Med Metab Biol 1991; 46:93–104.PubMedCrossRefGoogle Scholar
  40. 41.
    Ornstein KS, McGuire EJ, Berry GT, Roth S, Segal S. Abnormal galactosylation of complex carbohydrates in cultured fibroblasts from patients with galactose-1 phosphate uridyl-transferase deficiency. Pediatr Res 1992; 31:508–511.PubMedCrossRefGoogle Scholar
  41. 42.
    Beigi B, O’Keefe M, Bowell R, Naughten E, Badawi N, Lanigan B. Ophthalmic findings in classical galactosaemia—prospective study. Br J Ophthal 1993; 77:162–164.CrossRefGoogle Scholar
  42. 43.
    Hoefnagel D, Wurster-Hili D, Child EL. Ovarian failure in galactosemia. Lancet 1979, 2:1197.PubMedCrossRefGoogle Scholar
  43. 44.
    Steinmann B, Gitzelmann R, Zachmann M. Hypogonadism and galactosemia. N Engl J Med 1981,304:464–465.Google Scholar
  44. 45.
    Kaufman FR, Kogut MD, Donnell GN, et al. Hypergonadotropic hypogonadism in female patients with galactosemia. N Engl J Med 1981, 304:994–998.PubMedCrossRefGoogle Scholar
  45. 46.
    Chen YT, Mattison D, Feigenbaum L, et al. Reduction in oocyte number following prenatal exposure to a high galactose diet. Science 1981,214:1145–1147.PubMedCrossRefGoogle Scholar
  46. 47.
    Sauer MV, Kaufman FR, Paulson RJ, Lobo RA. Pregnancy after oocyte donation to a woman with ovarian failure and classical galactosemia. Fert Steril 1991; 55:1197–1199.Google Scholar
  47. 48.
    Irons M, Levy HL, Pueschel S, Castree K. Accumulation of galactose-1-phosphate in the galactosemic fetus despite maternal milk avoidance. J Pediatr 1985, 107:261–263.PubMedCrossRefGoogle Scholar
  48. 49.
    Jakobs C, Kleijer WJ, Bakker HD, Van Gennip AH, Przyrembel H, Niermeijer MF. Dietary restriction of maternal lactose intake does not prevent accumulation of galactitol in the amniotic fluid of fetuses affected with galactosemia. Prenat Diagn 1988, 8:641–645.PubMedCrossRefGoogle Scholar
  49. 50.
    Berry GT, Nissim I, Lin Z, Mazur AT, Gibson JB, Segal S. Endogenous synthesis of galactose in normal men and patients with hereditary galactosaemia. Lancet 1995; 346:1073–1074.PubMedCrossRefGoogle Scholar
  50. 51.
    Levy HL, Sepe SJ, Shih VE, Vawter GF, Klein JO. Sepsis due to Escherichia coli in neonates with galactosemia. N Engl J Med 1977, 297:823–825.PubMedCrossRefGoogle Scholar
  51. 52.
    Waisbren SE, Norman TR, Schnell RR, Levy HL. Speech and language deficits in early-treated children with galactosemia. J Pediatr 1983, 102:75–77.PubMedCrossRefGoogle Scholar
  52. 53.
    Nelson CD, Waggoner DD, Donnell GN, Tuerck JM, Buist NRM. Verbal dyspraxia in treated galactosemia. Pediatrics 1991; 88:346–350.PubMedGoogle Scholar
  53. 54.
    Koch TK, Schmidt KA, Wagstaff JE, Ng WG, Packman S. Neurologic complications in galactosemia. Pediatr Neurol 1992; 8:217–220.PubMedCrossRefGoogle Scholar
  54. 55.
    Kaufman FR, Horton EJ, Gott P, Wolff JA, Nelson MD, Azen C, Manis FR. Abnormal somatosensory evoked potential in patients with classic galactosemia:correlation with neurologic outcome. J Child Neurol 1995; 10:32–36.PubMedCrossRefGoogle Scholar
  55. 56.
    Kaufman FR, McBride-Chang C, Manis FR, Wolff JA, Nelson MD. Cognitive functioning, neurologic status and brain imaging in classical galactosemia. Eur J Pediatr 1995; 154(7 suppl 2):52–55.Google Scholar
  56. 57.
    Beutler E, Baluda M, Donnell GN. A new method for the detection of galactosemia and its carrier state. J Lab Clin Med 1964, 64:694–705.PubMedGoogle Scholar
  57. 58.
    Weismann UN, Rose-Beutler B, Schluchter R. Leguminose in the diet:the raffinose stachyose question. Eur J Pediatr 1995; 154(7 suppl 2):S93–96.CrossRefGoogle Scholar
  58. 59.
    Kaufman FR, Loro ML, Azen C, Wenz E, Gilsanz V. Effect of hypogonadism and deficient calcium intake on bone density in patients with galactosemia. J Pediatr 1993; 123:365–370.PubMedCrossRefGoogle Scholar
  59. 60.
    Kaufman FR, Xu YK, Ng WG, Donnell GN. Correlation of ovarian function with galactose-1-phosphate uridyl transferase levels in galactosemia. J Pediatr 1988,112:754–756.PubMedCrossRefGoogle Scholar
  60. 61.
    Nadler HL, Inouye T, Hsia DYY. Clinical galactosemia:a study of fifty-five cases. In: Hsia DYY, ed. Galactosemia. Springfield, IL: Charles C Thomas, 1969,127–139.Google Scholar
  61. 62.
    Waggoner DD, Buist NRM, Donnell GN. Long-term prognosis in galactosemia:results of a survey of 350 cases. J Inherited Metab Dis 1990; 13:802–818.PubMedCrossRefGoogle Scholar
  62. 63.
    Waggoner DD, Buist NRM. Long-term complications in treated galactosemia. 175 US cases. Int Pediatr 1993; 8:97–100.Google Scholar
  63. 64.
    Chen YT, Burchell A. Glycogen storage diseases. In: Scriver CR, Beaudet AL, Shy WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease. 7th ed. New York: McG raw-Hill 1995;935–966.Google Scholar
  64. 65.
    Pears JS, Jung RT, Hopwood D, Waddell ID, Burchell A. Glycogen storage disease diagnosed in adults. Quar J Med 1992; 82:207–222.Google Scholar
  65. 66.
    Fellows IW, Lowe JS, Ogilvie AL, Stevens A, Toghill PJ, Atkinson M. Type II glycogenosis presenting as liver disease in adults with atypical histologic features. J Clin Pathol 1983, 36:431–434.PubMedCrossRefGoogle Scholar
  66. 67.
    Mason HH, Andersen DH. Glycogen disease of the liver (von Gierke’s disease) with hepatomataxase report with metabolic studies. Pediatrics 1955, 16:785–799.PubMedGoogle Scholar
  67. 68.
    Chen Y-T, Coleman RA, Scheinman Jl, Kolbeck PC, Sidbury JB. Renal disease in type I glycogen storage disease. N Engl J Med 1988,318:7–11.PubMedCrossRefGoogle Scholar
  68. 69.
    Chen Y-T, Scheinman Jl, Park HK, Coleman RA, Roe CR. Amelioration of proximal renal tubular dysfunction in type I glycogen storage disease with dietary therapy. N Engl J Med 1990; 323:590–593.PubMedCrossRefGoogle Scholar
  69. 70.
    Hahn-Ullrich H, Sciuk J, Bartenstein P, Kreysing P, Ullrich K. Effective renal plasma flow in patients with glycogen storage disease type 1. Eur J Pediatr 1993; 152:674–676.PubMedCrossRefGoogle Scholar
  70. 71.
    Labrune P, Trioche P, Duvaltier I, Chevalier P, Odievre M. Hepatocellular adenomas in glycogen storage disease type I and II: a series of 43 patients and review of the literature. J Pediatr Gastroenterol Nutr 1997; 24:276–279.PubMedCrossRefGoogle Scholar
  71. 72.
    Haagsma EB, Smit GP, Niezen-Konig KE, Gouw AS, Meerman L, Slooff MJ. Type Illb glycogen storage disease associated with end-stage cirrhosis and hepatocellular carcinoma. Hepatology 1997; 25:537–540.PubMedCrossRefGoogle Scholar
  72. 73.
    Schwenk WF, Haymond MW. Optimal rate of enterai glucose administration in children with glycogen storage disease type 1. N Engl J Med 1986, 314:682–685.PubMedCrossRefGoogle Scholar
  73. 74.
    Greene HL, Slonim AK, Burr IM, Moran JR. Type I glycogen storage disease:Five years of management with nocturnal intragastric feeding. J Pediatr 1980, 96:590–595.PubMedCrossRefGoogle Scholar
  74. 75.
    Slonim AK, Coleman RA, Moses WS. Myopathy and growth failure in debrancher enzyme deficiency:improvement with high-protein nocturnal enterai therapy. J Pediatr 1984, 105:906–911.PubMedCrossRefGoogle Scholar
  75. 76.
    Smit GPA, Berger R, Potasnick R, Moses SW, Fernandes J. The dietary treatment of children with Type I glycogen storage disease with slow release carbohydrate. Pediatr Res 1984, 18:879–881.PubMedCrossRefGoogle Scholar
  76. 77.
    Chen Y-T, Cornblath M, Sidbury JB. Cornstarch therapy in type I glycogen storage disease. N Engl J Med 1984,310:171–175.PubMedCrossRefGoogle Scholar
  77. 78.
    Chen YT, Bazzarre CH, Lee MM, Sidbury JB, Coleman RA. Type I glycogen storage disease:nine years of management with cornstarch. Eur J Pediatr 1993; 152(suppl l):S56–59.PubMedCrossRefGoogle Scholar
  78. 79.
    Wolfsdorf Jl, Keller RJ, Landy H, Crigler JF. Glucose therapy for glycogenosis type 1 in infants: comparison of intermittent uncooked cornstarch and continuous overnight glucose feedings. J Pediatr 1990; 117:384–390.PubMedCrossRefGoogle Scholar
  79. 80.
    Goldberg T, Slonim AK. Nutrition therapy for hepatic glycogen storage diseases. J Am Dietetic Assoc 1993; 93:1423–1430.CrossRefGoogle Scholar
  80. 81.
    Wolfsdorf Jl, Crigler JR Jr. Biochemical evidence for the requirement of continuous glucose therapy in young adults with type 1 glycogen storage disease. J Inherited Metab Dis 1994; 17:234–241.PubMedCrossRefGoogle Scholar
  81. 82.
    Obara K, Saito T, Sato H, Ogawa M, Igarashi Y, Yoshinaga K. Renal histology in two adult patients with type I glycogen storage disease. Clin Nephrol 1993; 39:59–64.PubMedGoogle Scholar
  82. 83.
    Couper R, Kapelushnik J, Griffiths AM. Neutrophil dysfunction in glycogen storage disease Ib:association with Crohn’s-like colitis. Gastroenterology 1991; 100:549–554.PubMedGoogle Scholar
  83. 84.
    Schroten H, Roesler J, Breidenbach T, et al. Granylocyte and granulocytemacrophage colony-stimulating factors for treatment of neutropenia in glycogen storage disease type 1 b. J Pediatr 1991; 119:748–754.PubMedCrossRefGoogle Scholar
  84. 85.
    Roe TF, Coates TD, Thomas DW, Miller JH, Gilsanz V. Brief report treatment of chronic inflammatory bowel disease in glycogen storage disease type lb with colony stimulating factors. N Engl J Med 1992; 326:1666–1669.PubMedCrossRefGoogle Scholar
  85. 86.
    Hurst D, Kilpatrick L, Becker J, Lipani J, Kleman K, Perrine S, Douglas SD. Recombinant human GM-CSF treatment of neutropenia in glycogen storage disease lb. Am J Ped Hematol-Oncol 1993; 15:71–76.CrossRefGoogle Scholar
  86. 87.
    Ishiguro A, Nakahata T, Shimbo T, et al. Improvement of neutropenia and neutrophil dysfunction by granu-locyte colony-stimulating factor in a patient with glycogen storage disease type 1 b. Eur J Pediatr 1993; 152:18–20.PubMedCrossRefGoogle Scholar
  87. 88.
    McCawley LJ, Korchak HM, Douglas SD, Campbell DE, Thornton PS, Stanley CA, Baker L, Kilpatrick L. In vitro and in vivo effects of granulocyte colony-stimulating factor on neutrophils in glycogen storage disease type 1b:granulocyte colony stimulating factor therapy corrects the neutropenia and the defects in respiratory burst activity and Ca2+ mobilization. Pediatr Res 1994; 35:84–90.PubMedCrossRefGoogle Scholar
  88. 89.
    Ockner RK, Kaikaus RM, Bass NM. Fatty-acid metabolism and the pathogenesis of hepatocellular carcinoma: review and hypothesis. Hepatology 1993; 18:669–676.PubMedCrossRefGoogle Scholar
  89. 90.
    Limmer J, Fleig WE, Leupold D, Bittner R, Ditschuneit H, Beger H-G. Hepatocellular carcinoma in type I glycogen storage disease. Hepatology 1988, 8:531–537.PubMedCrossRefGoogle Scholar
  90. 91.
    Rosh JR, Collins JC, Groisman GM, Schwersenz AH, Schwartz M, Miller CM, LeLeiko NS. Management of hepatic adenoma in glycogen storage disease la. J Pediatr Gastroenterol Nutr 1995; 20:225–228.PubMedCrossRefGoogle Scholar
  91. 92.
    Yokoyama K, Hayashi H, Hinoshita F, et al. Renal lesion of type la glycogen storage disease:the glomerular size and renal localization of apolipoprotein. Nephron 1995; 70:348–352.PubMedCrossRefGoogle Scholar
  92. 93.
    Lee PJ, Celermajer DS, Robinson J, McCarthy SN, Betteridge DJ, Leonard JV. Hyperlipidaemia does not impair vascular endothelial function in glycogen storage disease type 1 a. Atherosclerosis 1994; 110:95–100.PubMedCrossRefGoogle Scholar
  93. 94.
    Levy E, Thibault L, Turgeon J, Roy CC, Gurbindo C, Lepage G, Godard M, Rivard GE, Seidman E. Beneficial effects of fish-oil supplements on lipids, lipoproteins, and lipoprotein lipase in patients with glycogen storage disease type 13. Am J Clin Nutr 1993; 57:922–929.PubMedGoogle Scholar
  94. 95.
    Lee PJ, Patel A, Hindmarsh PC, Mowat AP, Leonard JV. The prevalence of polycystic ovaries in the hepatic glycogen storage diseases:its association with hyperinsulinism. Clin Endocrinol 1995; 42:601–606.CrossRefGoogle Scholar
  95. 96.
    Farber M, Knuppel RA, Binkiewicz A, Kennison RD. Pregnancy and von Gierke’s disease. Obstetr Gynecol 1976,47:226–228.Google Scholar
  96. 97.
    Johnson MP, Compton A, Drugan A, Evans Ml. Metabolic control of von Gierke disease (glycogen storage disease type la) in pregnancy:maintenance of euglycemia with cornstarch. Obstetr Gynecol 1990; 75:507–510.Google Scholar
  97. 98.
    Ryan IP, Havel RJ, Laros RK Jr. Three consecutive pregnancies in a patient with glycogen storage disease type IA (von Gierke’s disease). Am J Obstetr Gynecol 1994; 170:1687–1690.Google Scholar
  98. 99.
    Ohura T, Inoue CN, Abukawa D, et al. Progressive pulmonary hypertension:a fatal complication of type I glycogen storage disease. J Inherited Metab Dis 1995; 18:361,362.PubMedCrossRefGoogle Scholar
  99. 100.
    Talente GM, Coleman RA, Alter C, et al. G Iycogen storage disease in adults (review). Ann Intern Med 1994; 120:218–226.PubMedGoogle Scholar
  100. 101.
    Brusilow SW, Horwich AL. Urea cycle enzymes. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease. 7th ed. New York: McGraw-Hill 1995; 1187–1232.Google Scholar
  101. 102.
    Brusilow SW. Urea cycle disorders:clinical paradigm of hyperammonemic encephalopathy. Chapter 12. In: Boyer JL, Ockner RK, eds. Progress in Liver Diseases. Philadelphia: WB Saunders 1995; 293–309.Google Scholar
  102. 103.
    Tallan HH, Schaffer F, Taffet SL, Schneidman K, Gaull GE. Ornithine carbamoyltransferase deficiency in an adult male patient:significance of hepatic ultrastructure in clinical diagnosis. Pediatr 1983; 71:224–232.Google Scholar
  103. 104.
    DiMagno EP, Lowe JF, Snodgrass PJ, Jones JD, Ornithine DiMagno EP, Lowe JF, Snodgrass PJ, Jones JD. Ornithine transcarbamylase deficiency — a cause of bizarre behavior in a man. N Engl J Med 1986; 315:744–747.PubMedCrossRefGoogle Scholar
  104. 105.
    Gilchrist JM, Coleman RA. Ornithine transcarbamylase deficiency:adult onset of severe symptoms. Ann Intern Med 1987; 106:556–558.PubMedGoogle Scholar
  105. 106.
    Call G, Seay AR, Sherry R, Qureshi TA. Clinical features of carbamyl phosphate synthetase-1-deficiency in an adult. Ann Neurol 1984; 16:90–93.PubMedCrossRefGoogle Scholar
  106. 107.
    Snebold NG, Rizzo JF, Lessel S, Pruett RC. Transient visual loss in ornithine transcarbamylase deficiency. Am J Ophthal 1987, 104:407–412.PubMedGoogle Scholar
  107. 108.
    Arn PH, Hauser ER, Thomas GH, Herman G, Hess D, Brusilow SW. Hyperammonemia in women with a mutation at the ornithine carbamoyltransferase locus. N Engl J Med 1990; 322:1652–1655.PubMedCrossRefGoogle Scholar
  108. 109.
    Brusilow SW, Finkelstein JE. Restoration of nitrogen homeostasis in a man with ornithine transcarbamylase deficiency. Metabolism 1993; 42:1336–1339.PubMedCrossRefGoogle Scholar
  109. 110.
    Wong IJC, Craigen WJ, O’Brien WE. Post-partum coma and death due to carbamoylphosphate synthetase I deficiency. Ann Intern Med 1994; 120:216,217.PubMedGoogle Scholar
  110. 111.
    Wilson BE, Hobbs WN, Newmark JJ, Farrow SJ. Rapidly fatal hyperammonemic coma i n adults. U rea cycle enzyme deficiency. West Med J 1994; 161:166–168.Google Scholar
  111. 112.
    Yoshino M, Nishiyori J, Yamashita F, Kumashiro R, et al. Ornithine transcarbamylase deficiency in male adolescence and adulthood. Enzyme 1990; 43:160–168.PubMedGoogle Scholar
  112. 113.
    Felig DM, Brusilow SW, Boyer JL. Hyperammonemic coma due to total parenteral nutrition in an adult woman with heterozygous ornithine transcarbamylase deficiency. Gastroenterology 1995; 109:282–284.PubMedCrossRefGoogle Scholar
  113. 114.
    Matsudo Y, Tsuji A, Katunuma N. Qualitative abnormality of liver argininosuccinase in a patient with citrullinemia. Adv Exp Med Biol 1982, 153:77–81.Google Scholar
  114. 115.
    Moser HW, Efron ML, Brown H, Diamond R, Neumann CG. Argininosuccinic aciduria:report of two cases and demonstration of intermittent elevation of blood ammonia. Am J Med 1967, 42:9–26.PubMedCrossRefGoogle Scholar
  115. 116.
    Hourani BT, Hamlin EM, Reynolds TB. Cerebrospinal fluid as a measure of hepatic encephalopathy. Arch Intern Med 1971, 127:1033–1066.PubMedCrossRefGoogle Scholar
  116. 117.
    LaBrecque DR, Latham PS, Riely CA, Hsia YE, Klatskin G. Heritable urea cycle enzyme deficiency in liver disease in 16 patients. J Pediatr 1979, 94:580–587.PubMedCrossRefGoogle Scholar
  117. 118.
    Zimmerman A, Bachmann C, Baumgartner R. Severe liverfibrosis in argininosuccinic aciduria. Arch Pathol Lab Med 1986, 110:136–140.Google Scholar
  118. 119.
    Reye RDK, Morgan G, Barai J. Encephalopathy and fatty degeneration of the viscera:a disease entity in childhood. Lancet 1963, 2:749–752.PubMedCrossRefGoogle Scholar
  119. 120.
    Wigger HJ. Frozen section of liver in the diagnosis of Reye syndrome. Am J Surg Path 1977, 1:271–274.PubMedCrossRefGoogle Scholar
  120. 121.
    Badizadegan K, Perez-Atayde AR. Focal glycogenosis of the liver in disorders of ureagenesis:its occurrence and diagnostic significance. Hepatology 1997; 26:365–673.PubMedCrossRefGoogle Scholar
  121. 122.
    Partin JC, Schubert WK, Partin JS. Mitochondrial ultrastructure in Reye’s syndrome (encephalopathy and fatty degeneration of the viscera). N Engl J Med 1971, 285:1339–1343.PubMedCrossRefGoogle Scholar
  122. 123.
    Latham PS, LaBrecque DR, McReynolds JW, Klatskin G. Liver ultrastructure in mitochondrial urea cycle enzyme deficiencies and comparison with Reye’s syndrome. Hepatology 1984, 4:404–407.PubMedCrossRefGoogle Scholar
  123. 124.
    Brown T, Brown H, Hug G. Carbamoylphosphate synthetase and ornithine transcarbamylase in liver of Reye’s syndrome. N Engl J Med 1974, 291:797–798.PubMedCrossRefGoogle Scholar
  124. 125.
    Snodgrass PJ, DeLong GR. Urea cycle enzyme deficiencies and an increased nitrogen load producing hyperammonemia in Reye’s syndrome. N Engl J Med 1976, 294:855–860.PubMedCrossRefGoogle Scholar
  125. 126.
    Neu AM, Christenson MJ, Brusilow SW, Nissenson RA. In: Fine RN, ed. Dialysis Therapy. 2nd ed. Philadelphia: Hanley and Belfus 1992; 371,372.Google Scholar
  126. 127.
    Hasegawa T, Tzakis AG, Todo S., Reyes J, Nour B, Finegold DN, Starzl TE. Orthotopic liver transplantation for ornithine transcarbamylase deficiency with hyperammonemic encephalopathy. J Pediatr Surg 1995; 30:863.PubMedCrossRefGoogle Scholar
  127. 128.
    Jan D, Poggi F, Jouvet P, Rabier D, Laurent J, Beringer A, Hubert P, Sandlebray JM, Revillon Y. Definitive cure of hyperammonemia by liver transplantation in urea cycle defects: report of three cases. Transplant Proc 1994; 26:188.PubMedGoogle Scholar
  128. 129.
    Hauser ER, Finkelstein JE, Valle D, Brusilow SW. Allopurinol-induced orotidinuria. A test for mutations at the ornithine carbamoyltransferase locus in women. N Engl J Med 1990; 322:1641–1645.PubMedCrossRefGoogle Scholar

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© Springer Science+Business Media New York 1998

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  • Janna C. Collins

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