• 1
    Berry GT. Disorders of amino acid metabolism. In: WalkerWA et al., eds. Pediatric Gastrointestinal Diseases. Volume 2, 2nd ed. St. Louis: Mosby, 1996: 11371154.
  • 2
    Ishak KG, Sharp HL. Metabolic errors and liver disease. In: MacSweenRNM, et al., eds. Pathology of the Liver. Third ed. Edinburgh: Churchill Livingstone, 1994: 123218.
  • 3
    Aida S, Ogata T, Kamota T, Nakamura N. Primary ornithine transcarbamylase deficiency. A case report and electron microscopic study. Acta Pathol Jpn 1989; 39: 451456.
  • 4
    Asanuma K, Takeuchi Y, Kanda M, Kikuchi Y, Yano N, Kakinuma H. Siblings with carbamyl phosphate synthetase I deficiency. Acta Pathol Jpn 1984; 34: 901910.
  • 5
    Bruton CJ, Corsellis JA, Russell A. Hereditary hyperammonaemia. Brain 1970; 93: 423434.
  • 6
    Capistrano-Estrada S, Marsden DL, Nyhan WL, Newbury RO, Krous HE, Tuchman M. Histopathological findings in a male with late-onset ornithine transcarbamylase deficiency. Pediatr Pathol 1994; 14: 235s243.
  • 7
    Corbeel LM, Colombo JP, Van Sande M, Weber A. Periodic attacks of lethargy in a baby with ammonia intoxication due to a congenital defect in ureogenesis. Arch Dis Child 1969; 44: 681687.
  • 8
    Freeman JM, Nicholson JF, Schimke RT, Rowland LP, Carter S. Congenital hyperammonemia. Association with hyperglycinemia and decreased levels of carbamyl phosphate synthetase. Arch Neurol 1970; 23: 430437.
  • 9
    Goldstein AS, Hoogenraad NJ, Johnson JD, Fukanaga K, Swierczewski E, Cann HM, Sunshine P. Metabolic and genetic studies of a family with ornithine transcarbamylase deficiency. Pediatr Res 1974; 8: 512.
  • 10
    Hopkins IJ, Connelly JF, Dawson AG, Hird FJR, Maddison TG. Hyperammonaemia due to ornithine transcarbamylase deficiency. Arch Dis Child 1969; 44: 143s148.
  • 11
    Krieger I, Snodgrass PJ, Roskamp J. Atypical clinical course of ornithine transcarbamylase deficiency due to a new mutant (comparison with Reye's disease). J Clin Endocrinol Metab 1979; 48: 388392.
  • 12
    LaBrecque DR, Latham PS, Riely CA, Hsia YE, Klatskin G. Heritable urea cycle enzyme deficiency-liver disease in 16 patients. J Pediatr 1979; 94: 580587.
  • 13
    Landrieu P, Francois B, Lyon G, Van Hoof F. Liver peroxisome damage during acute hepatic failure in partial ornithine transcarbamylase deficiency. Pediatr Res 1982; 16: 977981.
  • 14
    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: 404407.
  • 15
    Levin B, Abraham JM, Oberholzer VG, Burgess EA. Hyperammonaemia: a deficiency of liver ornithine transcarbamylase. Occurrence in mother and child. Arch Dis Child 1969; 44: 152s161.
  • 16
    Levin B, Dobbs RH, Burgess EA, Palmer T. Hyperammonaemia. A variant type of deficiency of liver ornithine transcarbamylase. Arch Dis Child 1969; 44: 162169.
  • 17
    Matsuda I, Arashima S, Nambu H, Takekoshi Y, Anakura M. Hyperammonemia due to a mutant enzyme of ornithine transcarbamylase. Pediatrics 1971; 48: 595600.
  • 18
    Shapiro JM, Schaffner F, Tallan HH, Gaull GE. Mitochondrial abnormalities of liver in primary ornithine transcarbamylase deficiency. Pediatr Res 1980; 14: 735739.
  • 19
    Sunshine P, Lindenbaum JE, Levy HL, Freeman JM. Hyperammonemia due to a defect in hepatic ornithine transcarbamylase. Pediatrics 1972; 50: 100111.
  • 20
    Tallan HH, Schaffner F, Taffet SL, Schneidman K, Gaull GE. Ornithine carbamoyltransferase deficiency in an adult male patient: significance of hepatic ultrastructure in clinical diagnosis. Pediatrics 1983; 71: 224232.
  • 21
    Zimmermann A, Bachmann C, Colombo J.-P. Ultrastructural pathology in congenital defects of the urea cycle: ornithine transcarbamylase and carbamylphosphate synthase deficiency. Virchow Arch [Pathol Anat] 1981; 393: 321331.
  • 22
    Gatfield PD, Taller E, Wolfe DM, Haust MD. Hyperornithinemia, hyperammonemia, and homocitrullinuria associated with decreased carbamyl phosphate synthase I activity. Pediatr Res 1975; 9: 488497.
  • 23
    Haust MD, Gatfield PD, Gordon BA. Ultrastructure of hepatic mitochondria in a child with hyperornithinemia, hyperammonemia, and homocitrullinuria. Hum Pathol 1981; 12: 212223.
  • 24
    Smith L, Lambert MA, Brochu P, Jasmin G, Qureshi IA, Seidman EG. Hyperornithinemia, hyperammonemia, homocitrullinuria (HHH) syndrome: presentation as acute liver disease with coagulopathy. J Pediatr Gastroenterol Nutr 1992; 15: 431436.
  • 25
    Simell O, Perheentupa J, Rapola J, Viskorpi JK, Eskelin L. Lysinuric protein intolerance. Am J Med 1975; 59: 229240.
  • 26
    Parto K, Kallajoki M, Aho H, Simell O. Pulmonary alveolar proteinosis and glomerulonephritis in lysinuric protein intolerance. Hum Pathol 1994; 25: 400407.
  • 27
    McManus DT, Moore R, Hill CM, Rodgers C, Carson DJ, Love AHG. Necropsy findings in lysinuric protein intolerance. J Clin Pathol 1996; 49: 345347.
  • 28
    Lake BD. Metabolic disorders of the liver. In: FilipeMI, LakeBD, eds. Histochemistry in Pathology. Second ed. Edinburgh: Churchill Livingstone, 1990: 235250.
  • 29
    Donohue WL, Uchida I. Leprechaunism. J. Pediatr 1954; 45: 505519.
  • 30
    Ordway NK, Stout LC. Intrauterine growth retardation, jaundice, and hypoglycemia in a neonate. J Pediatr 1973; 83: 867874.
  • 31
    Gumucio JJ. Hepatocyte heterogeneity: the coming of age from the description of a biological curiosity to a partial understanding of its physiological meaning and regulation. Hepatology 1989; 9: 154160.
  • 32
    Ricciuti FC, Gelehrter TD, Rosenberg LE. X-chromosome inactivation in human liver: confirmation of X-linkage of ornithine transcarbamylase. Am J Hum Genet 1976; 28: 332338.
  • 33
    Hart LM, Lindhout D, Van der Zon GCM, Kayserilli H, Apak MY, Kleijer WJ, Van der Vorm ER et al. An insulin receptor mutant (Asp707 1A ALA), involved in leprechaunism, is processed and transported to the cell surface but unable to bind insulin. J Biol Chem 1996; 271: 1871918724.
  • 34
    Jospe N, Kaplowitz PB, Furlanetto RW. Homozygous nonsense mutation in the insulin receptor gene of a patient with severe congenital insulin resistance: leprechaunism and the role of the insulin-like growth factor receptor. Clin Endocrinol (Oxf) 1996; 45: 229235.
  • 35
    Desbois-Mouthon C, Danan C, Amselem S, Blivet-Van Eggelpoel MJ, Ser-Langerton C, Goossens M, Besmond C et al. Severe resistance to insulin and insulin-like growth factor-I in cells from a patient with leprechaunism as a result of two mutations in the tyrosie kinase domain of the insulin receptor. Metabolism 1996; 45: 14931500.
  • 36
    Greene CL, Blitzer MG, Shapiro E. Inborn errors of metabolism and Reye syndrome: differential diagnosis. J Pediatr 1988; 113: 156159.
  • 37
    Rowe PC, Valle D, Brusilow SW. Inborn errors of metabolism in children referred with Reye's syndrome. JAMA 1988; 260: 31673170.
  • 38
    Bradel EJ, Reiner CB. The fine structure of hepatocytes in Reye's syndrome. In: PollackJD, ed. Reye's Syndrome. New York: Grune and Stratton, 1975: 147158.
  • 39
    Batshaw ML. Hyperammonemia. In: LockhartJD, ed. Current Problems in Pediatrics. Chicago: Year Book Medical Publishers, 1984: 369.
  • 40
    Coates PM. Inherited abnormalities in mitochondrial fatty acid oxidation. In: WalkerWA, et al., eds. Pediatric Gastrointestinal Diseases. Volume 2, 2nd ed. St. Louis: Mosby, 1996: 11631181.
  • 41
    Treem WR. Inborn defects in mitochondrial fatty acid oxidation. In: SuchyFJ, ed. Liver Diseases in Children. First ed. St. Louis: Mosby, 1994: 852887.