Advertisement

Springer Nature is making SARS-CoV-2 and COVID-19 research free. View research | View latest news | Sign up for updates

Significant increase of succinylacetone within the first 12 h of life in hereditary tyrosinemia type 1

Abstract

Introduction

In most countries, hereditary tyrosinemia type 1 is not included in routine newborn screening.

Discussion

We present the case of a female newborn with prenatal diagnosis of hereditary tyrosinemia type 1 and clear identification of this disorder by succinylacetone measurement in cord blood and peripheral blood immediately after birth. Succinylacetone was 44 μmol/L (norm <5 μmol/L) and increased within 12 h to 87.5 μmol/L.

Conclusion

With the high toxic potential of downstream metabolites, these data clearly point out the necessity of early nitisinone treatment to prevent symptomatic disease.

This is a preview of subscription content, log in to check access.

Fig. 1
Fig. 2
Fig. 3

References

  1. 1.

    Al-Dirbashi OY, Rashed MS, Jacob M et al (2008) Improved method to determine succinylacetone in dried blood spots for diagnosis of tyrosinemia type 1 using UPLC-MS/MS. Biomed Chromatogr 22:1181–1185

  2. 2.

    Allard P, Grenier A, Korson MS, Zytkovicz TH (2004) Newborn screening for hepatorenal tyrosinemia by tandem mass spectrometry: analysis of succinylacetone extracted from dried blood spots. Clin Biochem 37:1010–1015

  3. 3.

    Alvarez F et al (2005) Nitisinone (NTBC) treatment of hepatorenal tyrosinemia in Quebec. J Inherit Metab Dis 28(Suppl 1):49

  4. 4.

    Grompe M (2001) The pathophysiology and treatment of hereditary tyrosinemia type 1. Semin Liver Dis 21:563–571

  5. 5.

    Holme E, Lindstedt S (1998) Tyrosinaemia type I and NTBC (2-(2-nitro-4- trifluoromethylbenzoyl)-1, 3-cyclohexanedione). J Inherit Metab Dis 21:507–517

  6. 6.

    Holme E, Lindstedt S (2000) Nontransplant treatment of tyrosinemia. Clin Liver Dis 4:805–814

  7. 7.

    Hostetter MK, Levy HL, Winter HS, Knight GJ, Haddow JE (1983) Evidence for liver disease preceding amino acid abnormalities in hereditary tyrosinemia. N Engl J Med 308:1265–1267

  8. 8.

    Koelink CJ, van Hasselt P, van der Ploeg A et al (2006) Tyrosinemia type I treated by NTBC: how does AFP predict liver cancer? Mol Genet Metab 89(4):310–315

  9. 9.

    la Marca G, Malvagia S, Zammarchi E et al (2008) The inclusion of succinylacetone as marker for tyrosinemia type I in expanded newborn screening programs. Rapid Commun Mass Spectrom 22:812–818

  10. 10.

    Lindblad B, Lindstedt S, Steen G (1974) On the enzymatic defects in hereditary tyrosinemia. Proc Natl Acad Sci 74:4641–4645

  11. 11.

    Lindstedt S, Holme E, Lock EA, Hjalmarson O et al (1992) Treatment of hereditary tyrosinaemia type I by inhibition of 4-hydroxyphenylpyruvate dioxygenase. Lancet 340:813–817

  12. 12.

    Magera MJ, Gunawardena N, Matern D et al (2006) Quantitative determination of succinylacetone in dried blood spots for newborn screening of tyrosinemia type I. Mol Genet Metab 88:16–21

  13. 13.

    Mitchell G, Grompe M, Lambert M, Tanguay R (2001) Hypertyrosinemia. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease, 8th edn. McGraw-Hill, New York, pp 1777–1806

  14. 14.

    Rashed MS, Al-Ahaidib LY, Al-Dirbashi OY et al (2005) Tandem mass spectrometric assay of succinylacetone in urine for the diagnosis of hepatorenal tyrosinemia. Anal Biochem 339:310–317

  15. 15.

    Russo P, Mitchell G, Tanguay R (2001) Tyrosinemia: a review. Pediatr Dev Pathol 4:212–221

  16. 16.

    Sander J, Janzen N, Peter M et al (2006) Newborn screening for hepatorenal tyrosinemia: tandem mass spectrometric quantification of succinylacetone. Clin Chem 52:482–487

  17. 17.

    Santra S, Baumann U (2008) Experience of nitisinone for the pharmacological treatment of hereditary tyrosinaemia type 1. Expert Opin Pharmacother. 9:1229–1236

  18. 18.

    Schulze A, Frommhold D, Hoffmann GF, Mayatepek E (2001) Spectrophotometric microassay for delta-aminolevulinate dehydratase in dried-blood spots as confirmation for hereditary tyrosinemia type I. Clin Chem 47:1424–1429

  19. 19.

    Scott CR (2006) The genetic tyrosinemias. Am J Med Genet Part C Semin Med Genet 142C:121–126

  20. 20.

    Tarini BA (2007) The current revolution in newborn screening: new technology, old controversies. Arch Pediatr Adolesc Med 161:767–772

  21. 21.

    Turgeon C, Magera MJ, Allard P et al (2008) Combined newborn screening for succinylacetone, amino acids, and acylcarnitines in dried blood spots. Clin Chem 54:657–664

  22. 22.

    Wästfeld M, Fadeel B, Henter JI (2006) A journey of hope: lessons learned from studies on rare diseases and orphan drugs. J Intern Med 260:1–10

  23. 23.

    Weigel JF, Janzen N, Pfäffle RW et al (2007) Tandem mass spectrometric determination of succinylacetone in dried blood spots enables presymptomatic detection in a case of hepatorenal tyrosinaemia. J Inherit Metab Dis 30:610

  24. 24.

    Wilson JM, Jungner G (1968) Principles and practice of screening for disease. WHO, Geneva, p 343

Download references

Author information

Correspondence to Jan-Ulrich Schlump.

Rights and permissions

Reprints and Permissions

About this article

Cite this article

Schlump, J., Mayatepek, E. & Spiekerkoetter, U. Significant increase of succinylacetone within the first 12 h of life in hereditary tyrosinemia type 1. Eur J Pediatr 169, 569–572 (2010). https://doi.org/10.1007/s00431-009-1074-1

Download citation

Keywords

  • HT1
  • Newborn screening
  • Nitisinone