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European Journal of Pediatrics

, Volume 144, Issue 6, pp 597–598 | Cite as

Prenatal diagnosis of hereditary tyrosinaemia type I by determination of fumarylacetoacetase in chorionic villus material

  • E. A. Kvittingen
  • Pr. P. Guibaud
  • P. Divry
  • G. Mandon
  • M. O. Rolland
  • Y. Domenichini
  • C. Jakobs
  • E. Christensen
Letters to the Editors

Keywords

Public Health Prenatal Diagnosis Tyrosinaemia Type Hereditary Tyrosinaemia Type Fumarylacetoacetase 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

References

  1. 1.
    Divry P, Rolland MO, Tessier J, Desage M, Cotte J (1982) GC-MS identification of urinary succinylacetone in two cases of hereditary tyrosinaemia. J Inher Metab Dis 5 [Suppl 1]:41–42Google Scholar
  2. 2.
    Gagne R, Lescault A, Grenier A, Laberge C, Melancon SB, Dallaire L (1982) Prenatal diagnosis of hereditary tyrosinemia: measurement of succinylacetone in ammiotic fluid. Prenat Diagn 2:185–188Google Scholar
  3. 3.
    Holme E, Lindblad B, Lindstedt S (1985) Possibilities for treatment and for early prenatal diagnosis of hereditary tyrosinaemia. Lancet I:527Google Scholar
  4. 4.
    Jakobs C, Kvittingen EA, Berger R, Haagen A, Kleijer W, Niermeijer M (1985) Prenatal diagnosis of tyrosinemia type I by use of stable isotope dilution mass spectrometry. Eur J Pediatr 144:209–210Google Scholar
  5. 5.
    Kvittingen EA, Halvorsen S, Jellum E (1983) Deficient fumarylacetoacetate fumarylhydrolase activity in lymphocytes and fibroblasts from patients with hereditary tyrosinemia. Pediatr Res 14:541–544Google Scholar
  6. 6.
    Kvittingen EA, Steinmann B, Gitzelmann R, Leonard JV, Andria G, Børresen AL, Mossman J, Micara G, Lindblad B (1985) Prenatal diagnosis of hereditary tyrosinemia by determination of fumarylacetoacetase in cultured amniotic fluid cells. Pediatr Res 19:334–337Google Scholar
  7. 7.
    Lindblad B, Lindstedt S, Steen G (1974) On the enzymic defects in hereditary tyrosinaemia. Proc Natl Acad Sci (USA) 74:4641–4645Google Scholar
  8. 8.
    Pettil BR, Kvittingen EA, Leonard JV (1985) Early prenatal diagnosis of hereditary tyrosinaemia. Lancet I:1038Google Scholar

Copyright information

© Springer-Verlag 1986

Authors and Affiliations

  • E. A. Kvittingen
    • 1
  • Pr. P. Guibaud
    • 2
  • P. Divry
    • 3
  • G. Mandon
    • 3
  • M. O. Rolland
    • 3
  • Y. Domenichini
    • 4
  • C. Jakobs
    • 5
  • E. Christensen
    • 6
  1. 1.Institute of Clinical BiochemistryRikshospitaletOsloNorway
  2. 2.Service de Genetique et de PediatrieHopital DebrousseLyonFrance
  3. 3.Service de BiochimieHopital DebrousseLyonFrance
  4. 4.Service d'Obstétrique du Pr. ThoulonHotel-DieuLyonFrance
  5. 5.Department of PediatricsAcademic Hospital Free University AmsterdamThe Netherlands
  6. 6.Department of Clinical GeneticsRigshospitaletCopenhagenDenmark

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