Abstract
Given the interest of many people and families directly or indirectly affected by hereditary tyrosinemia (HT1), I have tried to give my view on the history of the disease from 1965 to 2015 (Fig. 1.1).
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References
Belanger L, Belanger M, Prive L, Larochelle J, Tremblay M, Aubin G (1973) Hereditary tyrosinemia and alpha-1-fetoprotein. I. Clinical value of alpha-fetoprotein in hereditary tyrosinemia. Pathol Biol 21(5):449–455
De Braekeleer M, Larochelle J (1990) Genetic epidemiology of hereditary tyrosinemia in Quebec and in Saguenay-Lac-St-Jean. Am J Hum Genet 47(2):302–307
Gagne R (1978) Genetic counseling: experience of 4 years. L’union Med Canada 107(4):391–393
Grompe M, St-Louis M, Demers SI, al-Dhalimy M, Leclerc B, Tanguay RM (1994) A single mutation of the fumarylacetoacetate hydrolase gene in French Canadians with hereditary tyrosinemia type I. N Engl J Med 331(6):353–357. doi:10.1056/NEJM199408113310603
Laberge C (1969) Hereditary tyrosinemia in a French Canadian isolate. Am J Hum Genet 21(1):36–45
Laberge C, Dallaire L (1967) Genetic aspects of tyrosinemia in the Chicoutimi region. Can Med Assoc J 97(18):1099–1101
Larochelle J, Alvarez F, Bussieres JF, Chevalier I, Dallaire L, Dubois J, Faucher F, Fenyves D, Goodyer P, Grenier A, Holme E, Laframboise R, Lambert M, Lindstedt S, Maranda B, Melancon S, Merouani A, Mitchell J, Parizeault G, Pelletier L, Phan V, Rinaldo P, Scott CR, Scriver C, Mitchell GA (2012) Effect of nitisinone (NTBC) treatment on the clinical course of hepatorenal tyrosinemia in Quebec. Mol Genet Metab 107(1–2):49–54
Lindblad B, Lindstedt S, Steen G (1977) On the enzymic defects in hereditary tyrosinemia. Proc Natl Acad Sci U S A 74(10):4641–4645
Lindstedt S, Holme E, Lock EA, Hjalmarson O, Strandvik B (1992) Treatment of hereditary tyrosinaemia type I by inhibition of 4-hydroxyphenylpyruvate dioxygenase. Lancet 340(8823):813–817
Mitchell G, Larochelle J, Lambert M, Michaud J, Grenier A, Ogier H, Gauthier M, Lacroix J, Vanasse M, Larbrisseau A et al (1990) Neurologic crises in hereditary tyrosinemia. N Engl J Med 322(7):432–437
Phaneuf D, Lambert M, Laframboise R, Mitchell G, Lettre F, Tanguay RM (1992) Type 1 hereditary tyrosinemia. Evidence for molecular heterogeneity and identification of a causal mutation in a French Canadian patient. J Clin Invest 90(4):1185–1192
Sakai K, Kitagawa T (1957a) An atypical case of tyrosinosis (1-para-hydroxyphenyllactic aciduria) Part 2. A research on the metabolic block. Jikei Med J 4:11–15
Sakai K, Kitagawa T (1957b) An atypical case of tyrosinosis (1-Parahydroxyphenyl-lactic aciduria) Part 1. Clinical and laboratory findings. Jikei Med J 2:1–5
Sakai K, Kitagawa T (1959) An atypical case of tyrosinosis (1-Parahydroxyphenyl-lactic aciduria) Part 3. The outcome of the patient; pathological and biochemical observations of the organ tissues. Jikei Med J 6:15–18
Scriver CR, Larochelle J, Silverberg M (1967a) Hereditary tyrosinemia and tyrosyluria in a French Canadian geographic isolate. Am J Dis Child 113(1):41–46
Scriver CR, Silverberg M, Clow CL (1967b) Hereditary tyrosinemia and tyrosyluria: clinical report of four patients. Can Med Assoc J 97(18):1047–1050
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Larochelle, J. (2017). Discovery of Hereditary Tyrosinemia in Saguenay- Lac St-Jean. In: Tanguay, R. (eds) Hereditary Tyrosinemia. Advances in Experimental Medicine and Biology, vol 959. Springer, Cham. https://doi.org/10.1007/978-3-319-55780-9_1
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