Skip to main content
NCBI home page
Archives of Disease in Childhood logoLink to Archives of Disease in Childhood
. 1976 Feb;51(2):106–113. doi: 10.1136/adc.51.2.106

Hereditary tyrosinaemia. Clinical, enzymatic, and pathological study of an infant with the acute form of the disease.

N A Carson, J D Biggart, A H Bittles, D Donovan
PMCID: PMC1545902  PMID: 1259456

Abstract

A clinical, enzymatic, and pathological study of an infant with the acute form of hereditary tyrosinaemia is presented. Treatment with a diet low in methionine, tyrosine, and phenylalanine was unsuccessful. A selection of specific and nonspecific hepatic enzymes, obtained at necropsy within one hour of the infant's death at 9 1/2 weeks, were studied to try to throw light on the basic defect. The major pathological findings were those of a peculiar hepatic fibrosis associated with bile retention and an abnormal grouping of hepatocytes, islet-cell hyperplasia of the pancreas, and dilatation of the proximal renal tubules. Death was precipitated by bronchopneumonia and liver failure. The difficulty in diagnosing the acute form of tyrosinaemia is pointed out, especially in differentiating it from hereditary galactosaemia (transferase deficiency) and hereditary fructosaemia. All three may present with the same clinical symptoms and liver lesions, and the distinction must be made by enzyme studies and by therapeutic trial.

Full text

PDF
106

Images in this article

111FIG.
on p.111

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. BABER M. D. A case of congenital cirrhosis of the liver with renal tubular defects akin to those in the Fanconi syndrome. Arch Dis Child. 1956 Oct;31(159):335–339. doi: 10.1136/adc.31.159.335. [DOI] [PMC free article] [PubMed] [Google Scholar]
  2. Baerlocher K., Gitzelmann R., Nüssli R., Dumermuth G. Infantile lactic acidosis due to hereditary fructose 1,6-diphosphatase deficiency. Helv Paediatr Acta. 1971 Dec;26(5):489–506. [PubMed] [Google Scholar]
  3. Bakker H. D., de Bree P. K., van Sprang F. J., Wadman S. K. Fructose-1,6-diphosphatase deficiency: another enzyme defect which can present itself with the clinical features of "tyrosinosis". Clin Chim Acta. 1974 Aug 30;55(1):41–47. doi: 10.1016/0009-8981(74)90331-3. [DOI] [PubMed] [Google Scholar]
  4. Bodegård G., Gentz J., Lindblad B., Lindstedt S., Zetterström R. Hereditary tyrosinemia. 3. On the differential diagnosis and the lack of effect of early dietary treatment. Acta Paediatr Scand. 1969 Jan;58(1):37–48. doi: 10.1111/j.1651-2227.1969.tb04327.x. [DOI] [PubMed] [Google Scholar]
  5. GENTZ J., JAGENBURG R., ZETTERSTROEM R. TYROSINEMIA. J Pediatr. 1965 Apr;66:670–696. doi: 10.1016/s0022-3476(65)80002-6. [DOI] [PubMed] [Google Scholar]
  6. Gaull G. E., Rassin D. K., Solomon G. E., Harris R. C., Sturman J. A. Biochemical observations on so-called hereditary tyrosinemia. Pediatr Res. 1970 Jul;4(4):337–344. doi: 10.1203/00006450-197007000-00004. [DOI] [PubMed] [Google Scholar]
  7. Halvorsen S., Pande H., Loken A. C., Gjessing L. R. Tyrosinosis. A study of 6 cases. Arch Dis Child. 1966 Jun;41(217):238–249. doi: 10.1136/adc.41.217.238. [DOI] [PMC free article] [PubMed] [Google Scholar]
  8. Harries J. T., Seakins J. W., Ersser R. S., Lloyd J. K. Recovery after dietary treatment of an infant with features of tyrosinosis. Arch Dis Child. 1969 Apr;44(234):258–267. doi: 10.1136/adc.44.234.258. [DOI] [PMC free article] [PubMed] [Google Scholar]
  9. Jevtic M. M., Thorp F. K., Hruban Z. Hereditary tyrosinemia with hyperplasia and hypertrophy of juxtaglomerular apparatus. Am J Clin Pathol. 1974 Mar;61(3):423–437. doi: 10.1093/ajcp/61.3.423. [DOI] [PubMed] [Google Scholar]
  10. Larochelle J., Mortezai A., Belanger M., Tremblay M., Claveau J. C., Aubin G. Experience with 37 infants with tyrosinemia. Can Med Assoc J. 1967 Oct 28;97(18):1051–1054. [PMC free article] [PubMed] [Google Scholar]
  11. Levine R. J., Conn H. O. Tyrosine metabolism in patients with liver disease. J Clin Invest. 1967 Dec;46(12):2012–2020. doi: 10.1172/JCI105690. [DOI] [PMC free article] [PubMed] [Google Scholar]
  12. McLean A. E. Enzyme activity in the liver and serum of malnourished children in Jamaica. Clin Sci. 1966 Feb;30(1):129–137. [PubMed] [Google Scholar]
  13. Odièvre M., Gautier M., Rieu D. Intolérance héréditaire au fructose du nourrisson: évolution des lésions histologiques hépatiques sous traitement diététique prolongé (étude de huit observations) Arch Fr Pediatr. 1969 Apr;26(4):433–443. [PubMed] [Google Scholar]
  14. PERRY T. L., HARDWICK D. F., DIXON G. H., DOLMAN C. L., HANSEN S. HYPERMETHIONINEMIA: A METABOLIC DISORDER ASSOCIATED WITH CIRRHOSIS, ISLET CELL HYPERPLASIA, AND RENAL TUBULAR DEGENERATION. Pediatrics. 1965 Aug;36:236–250. [PubMed] [Google Scholar]
  15. Perry T. L. Tyrosinemia associated with hypermethioninemia and islet cell hyperplasia. Can Med Assoc J. 1967 Oct 28;97(18):1067–1075. [PMC free article] [PubMed] [Google Scholar]
  16. Pickering D., Bower B. Temporary tyrosinosis. Arch Dis Child. 1972 Feb;47(251):151–151. doi: 10.1136/adc.47.251.151. [DOI] [PMC free article] [PubMed] [Google Scholar]
  17. SOMMERVILLE R. L., FLEISHER G. A., DEARING W. H., HALLENBECK G. A., DOCKERTY M. B. Transaminases in hepatic tissue and serum in hepatic disease. Gastroenterology. 1960 Jun;38:926–936. [PubMed] [Google Scholar]
  18. Scriver C. R., Davies E. Endogenous renal clearance rates of free amino acids in pre-pubertal children. (Employing an accelerated procedure for elution chromatography of basic amino acids on ion exchange resin). Pediatrics. 1965 Oct;36(4):592–598. [PubMed] [Google Scholar]
  19. Woolf L. I. Tyrosinosis (inborn hepato-renal dysfunction). Proc R Soc Med. 1966 Sep;59(9):814–815. doi: 10.1177/003591576605900903. [DOI] [PMC free article] [PubMed] [Google Scholar]
  20. Yu J. S., Walker-Smith J. A., Burnard E. D. Neonatal hepatitis in premature infants simulating hereditary tyrosinosis. Arch Dis Child. 1971 Jun;46(247):306–309. doi: 10.1136/adc.46.247.306. [DOI] [PMC free article] [PubMed] [Google Scholar]
  21. ZELMAN S., WANG C. C. Transaminases in serum and liver correlated with liver cell necrosis in needle aspiration biopsies. Am J Med Sci. 1959 Mar;237(3):323–334. doi: 10.1097/00000441-195903000-00006. [DOI] [PubMed] [Google Scholar]
  22. van Sande M., Mardens Y., Adriaenssens K., Lowenthal A. The free amino acids in human cerebrospinal fluid. J Neurochem. 1970 Feb;17(2):125–135. doi: 10.1111/j.1471-4159.1970.tb02193.x. [DOI] [PubMed] [Google Scholar]

Articles from Archives of Disease in Childhood are provided here courtesy of BMJ Publishing Group

RESOURCES