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Hereditary Tyrosinemia and Tyrosyluria in a French Canadian Geographic Isolate

Hereditary Tyrosinemia and Tyrosyluria in a French Canadian Geographic Isolate Abstract FOUR patients with "tyrosinosis" were brought to our attention and investigated during the past year. All of them came from the secluded Lac St Jean-Saguenay area of Quebec province (Fig 1), with a population of 500,000. The principle immigration to this region occurred 150 years ago, and relatively little internal intermingling from adjacent communities has occurred since. The ancestry of the majority of this population is reputed to trace back to 21 original French-Canadian settlers. During the past decade, 41 patients with "tyrosinosis" (including the present four patients) have been discovered in 29 families who live in the region. Five of the infants are still living and have proven "tyrosinosis;" 35 infants have died with its acute manifestations;1,2 and one has died of encephalitis. The current birth rate in this region is approximately 5%; the local incidence of tyrosinosis is therefore about one in 6,000 births, or at least References 1. Larochelle, J.; Privé, L.; and Mortezai, A.: 29 cas de cirrhose chez le nourrison dont 14 cas familiaux, read before the Canadian Pediatric Society, Ottawa, 1965, and the Canadian Conference on Tyrosinosis, Toronto, March 8, 1966. 2. Scriver, C.R.; Larochelle, J.; and Silverberg, M.: Hereditary Tyrosinemia, (Tyrosinosis): p-HPPA Oxidase Deficiency , Proc Soc Pediat Res, 36th Annual Meeting , Atlantic City, 1966, p 191. 3. Baber, M.D.: A Case of Congenital Cirrhosis of the Liver With Renal Tubular Defects Akin to the Fanconi Syndrome , Arch Dis Child 31:335, 1956.Crossref 4. Fritzell, S.; Jagenburg, O.R.; and Schnürer, L-B.: Familial Cirrhosis of the Liver: Renal Tubular Defects With Rickets and Impaired Tyrosine Metabolism , Acta Paediat 53:18, 1964.Crossref 5. Gentz, J.; Jagenburg, R.; and Zetterström, R.: Tyrosinemia, an Inborn Error of Tyrosine Metabolism With Cirrhosis of the Liver and Multiple Renal Tubular Defects (deToni-Debre-Fanconi syndrome) , J Pediat 66:670, 1965.Crossref 6. Spackman, D.H.: Instruction Manual and Handbook, Model 120 Amino Acid Analyzer , Palo Alto, Calif: Beckman Instruments, Inc., Spinco Division, 1960. 7. Perry, T.L.; Hansen, S.; and MacDougall, L.: Urinary Screening Tests in the Prevention of Mental Deficiency , Canad Med Assoc J 95:89, 1966. 8. Efron, M.L., et al: A Simple Chromatographic Screening Test for the Detection of Disorders of Amino Acid Metabolism , New Eng J Med 270:1378, 1964.Crossref 9. Scriver, C.R.; Davies, E.; and Cullen, A.M.: Application of a Simple Method to the Screening of Plasma for a Variety of Aminoacidopathies , Lancet 2:230, 1964.Crossref 10. Sankoff, I., and Sourkes, T.L.: Determination of Thin-Layer Chromatography of Urinary Homovanillic Acid in Normal and Disease States , Canad J Biochem Physiol 41:1381, 1963.Crossref 11. Dent, C.E.: A Study of the Behaviour of Some Sixty Amino Acids and Other Ninhydrin Reacting Substances on Phenol-"Collidine" Filter Paper Chromatograms With Notes as to the Occurrence of Some of Them in Biological Fluids , Bio-Chem J 43:169, 1948. 12. La Du, B.N.: The Enzymatic Deficiency in Tyrosinemia, Amer J Dis Child, this issue. 13. Menkes, J.H., and Avery, M.E.: The Metabolism of Phenylalanine and Tyrosine in the Premature Infant , Bull Johns Hopkins Hosp 113:301, 1963. 14. Halvorsen, S., and Gjessing, L.R.: Studies on Tyrosinosis: 1. Effect of Low-Tyrosine and Low Phenylalanine Diet , Brit Med J 2:1171, 1964.Crossref 15. Greenberg, R.E., et al: Hypermethioninemia , abstracted, Proc Amer Pediat Soc , 74th annual meeting, Seattle, 1964, p 142. 16. Sass-Kortsak, A.; Jackson, S.H.; and Scriver, C.: Tyrosyluria and Hypermethioninemia in an Infant with Hepatic Cirrhosis and Nodular Hyperplasia , abstracted, Proc Amer Pediat Soc , 74th annual meeting, Seattle, 1964, p 74. 17. Perry, T.L., et al: Hypermethioninemia, a New Metabolic Disease Producing Cirrhosis, Islet Cell Hyperplasia and Renal Tubular Degeneration , Pediatrics 36:236, 1965. 18. Gjessing, L.R., and Halvorsen, S.: Hypermethioninemia in Acute Tyrosinosis , Lancet 2:1132, 1965.Crossref 19. Scriver, C.R.; Clow, C.L.; and Silverberg, M.: Hypermethioninemia in Acute Tyrosinosis , Lancet 1:153, 1966.Crossref 20. Klavins, J.V.; Kinney, T.D.; and Kaufman, N.: Histopathologic Changes in Methionine Excess , Arch Path 75:661, 1963. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png American Journal of Diseases of Children American Medical Association

Hereditary Tyrosinemia and Tyrosyluria in a French Canadian Geographic Isolate

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Publisher
American Medical Association
Copyright
Copyright © 1967 American Medical Association. All Rights Reserved.
ISSN
0002-922X
DOI
10.1001/archpedi.1967.02090160091008
Publisher site
See Article on Publisher Site

Abstract

Abstract FOUR patients with "tyrosinosis" were brought to our attention and investigated during the past year. All of them came from the secluded Lac St Jean-Saguenay area of Quebec province (Fig 1), with a population of 500,000. The principle immigration to this region occurred 150 years ago, and relatively little internal intermingling from adjacent communities has occurred since. The ancestry of the majority of this population is reputed to trace back to 21 original French-Canadian settlers. During the past decade, 41 patients with "tyrosinosis" (including the present four patients) have been discovered in 29 families who live in the region. Five of the infants are still living and have proven "tyrosinosis;" 35 infants have died with its acute manifestations;1,2 and one has died of encephalitis. The current birth rate in this region is approximately 5%; the local incidence of tyrosinosis is therefore about one in 6,000 births, or at least References 1. Larochelle, J.; Privé, L.; and Mortezai, A.: 29 cas de cirrhose chez le nourrison dont 14 cas familiaux, read before the Canadian Pediatric Society, Ottawa, 1965, and the Canadian Conference on Tyrosinosis, Toronto, March 8, 1966. 2. Scriver, C.R.; Larochelle, J.; and Silverberg, M.: Hereditary Tyrosinemia, (Tyrosinosis): p-HPPA Oxidase Deficiency , Proc Soc Pediat Res, 36th Annual Meeting , Atlantic City, 1966, p 191. 3. Baber, M.D.: A Case of Congenital Cirrhosis of the Liver With Renal Tubular Defects Akin to the Fanconi Syndrome , Arch Dis Child 31:335, 1956.Crossref 4. Fritzell, S.; Jagenburg, O.R.; and Schnürer, L-B.: Familial Cirrhosis of the Liver: Renal Tubular Defects With Rickets and Impaired Tyrosine Metabolism , Acta Paediat 53:18, 1964.Crossref 5. Gentz, J.; Jagenburg, R.; and Zetterström, R.: Tyrosinemia, an Inborn Error of Tyrosine Metabolism With Cirrhosis of the Liver and Multiple Renal Tubular Defects (deToni-Debre-Fanconi syndrome) , J Pediat 66:670, 1965.Crossref 6. Spackman, D.H.: Instruction Manual and Handbook, Model 120 Amino Acid Analyzer , Palo Alto, Calif: Beckman Instruments, Inc., Spinco Division, 1960. 7. Perry, T.L.; Hansen, S.; and MacDougall, L.: Urinary Screening Tests in the Prevention of Mental Deficiency , Canad Med Assoc J 95:89, 1966. 8. Efron, M.L., et al: A Simple Chromatographic Screening Test for the Detection of Disorders of Amino Acid Metabolism , New Eng J Med 270:1378, 1964.Crossref 9. Scriver, C.R.; Davies, E.; and Cullen, A.M.: Application of a Simple Method to the Screening of Plasma for a Variety of Aminoacidopathies , Lancet 2:230, 1964.Crossref 10. Sankoff, I., and Sourkes, T.L.: Determination of Thin-Layer Chromatography of Urinary Homovanillic Acid in Normal and Disease States , Canad J Biochem Physiol 41:1381, 1963.Crossref 11. Dent, C.E.: A Study of the Behaviour of Some Sixty Amino Acids and Other Ninhydrin Reacting Substances on Phenol-"Collidine" Filter Paper Chromatograms With Notes as to the Occurrence of Some of Them in Biological Fluids , Bio-Chem J 43:169, 1948. 12. La Du, B.N.: The Enzymatic Deficiency in Tyrosinemia, Amer J Dis Child, this issue. 13. Menkes, J.H., and Avery, M.E.: The Metabolism of Phenylalanine and Tyrosine in the Premature Infant , Bull Johns Hopkins Hosp 113:301, 1963. 14. Halvorsen, S., and Gjessing, L.R.: Studies on Tyrosinosis: 1. Effect of Low-Tyrosine and Low Phenylalanine Diet , Brit Med J 2:1171, 1964.Crossref 15. Greenberg, R.E., et al: Hypermethioninemia , abstracted, Proc Amer Pediat Soc , 74th annual meeting, Seattle, 1964, p 142. 16. Sass-Kortsak, A.; Jackson, S.H.; and Scriver, C.: Tyrosyluria and Hypermethioninemia in an Infant with Hepatic Cirrhosis and Nodular Hyperplasia , abstracted, Proc Amer Pediat Soc , 74th annual meeting, Seattle, 1964, p 74. 17. Perry, T.L., et al: Hypermethioninemia, a New Metabolic Disease Producing Cirrhosis, Islet Cell Hyperplasia and Renal Tubular Degeneration , Pediatrics 36:236, 1965. 18. Gjessing, L.R., and Halvorsen, S.: Hypermethioninemia in Acute Tyrosinosis , Lancet 2:1132, 1965.Crossref 19. Scriver, C.R.; Clow, C.L.; and Silverberg, M.: Hypermethioninemia in Acute Tyrosinosis , Lancet 1:153, 1966.Crossref 20. Klavins, J.V.; Kinney, T.D.; and Kaufman, N.: Histopathologic Changes in Methionine Excess , Arch Path 75:661, 1963.

Journal

American Journal of Diseases of ChildrenAmerican Medical Association

Published: Jan 1, 1967

References