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 

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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