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January 1967, Vol 113, No. 1 >
Article | January 1967

Hereditary Tyrosinemia and Tyrosyluria in a French Canadian Geographic Isolate FREE

CHARLES R. SCRIVER, MDCM; JEAN LAROCHELLE, MD; MERVIN SILVERBERG, MD
[+] Author Affiliations

Received for publication Sept 7, 1966.

Read before the Symposium on Treatment of Amino Acid Disorders, Children's Memorial Hospital, Chicago, Sept 3-4, 1966.

Reprint requests to 2300 Tupper St, Montreal 2, PQ, Canada (Dr. Scriver).

Tyrosinemia=plasma level >0.070μmol/ml.

Tyrosyluria=hyperexcretion of p-hydroxyphenylpyruvic acid (pHPPA), p-hydroxyphenylactic acid (pHPLA), and p-hydroxyphenylacetic acid (pHPAA) assessed qualitatively by ferric chloride, 2,4 dinitro phenylhydrazine and nitroso-β-naphthol reactions7 on urine.


Am J Dis Child. 1967;113(1):41-46. doi:10.1001/archpedi.1967.02090160091008.
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References
Comments

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;.
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;.
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;.
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;.
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;.
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;.
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;.
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;.
19 +
Scriver, C.R.; Clow, C.L.; and Silverberg, M.:  Hypermethioninemia in Acute Tyrosinosis , Lancet 1:153, 1966;.
20 +
Klavins, J.V.; Kinney, T.D.; and Kaufman, N.:  Histopathologic Changes in Methionine Excess , Arch Path 75:661, 1963;.

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Country-Specific Mortality and Growth Failure in Infancy and Yound Children and Association With Material Stature

Use interactive graphics and maps to view and sort country-specific infant and early dhildhood mortality and growth failure data and their association with maternal

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;.
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;.
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;.
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;.
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;.
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;.
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;.
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;.
19 +
Scriver, C.R.; Clow, C.L.; and Silverberg, M.:  Hypermethioninemia in Acute Tyrosinosis , Lancet 1:153, 1966;.
20 +
Klavins, J.V.; Kinney, T.D.; and Kaufman, N.:  Histopathologic Changes in Methionine Excess , Arch Path 75:661, 1963;.

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