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European Journal of Pediatrics

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01-05-2010 | Original Paper

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

Authors: Jan-Ulrich Schlump, Ertan Mayatepek, Ute Spiekerkoetter

Published in: European Journal of Pediatrics | Issue 5/2010

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.

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Title: Significant increase of succinylacetone within the first 12 h of life in hereditary tyrosinemia type 1
Authors: Jan-Ulrich Schlump
Ertan Mayatepek
Ute Spiekerkoetter
Publication date: 01-05-2010
Publisher: Springer-Verlag
Published in: European Journal of Pediatrics / Issue 5/2010
Print ISSN: 0340-6199
Electronic ISSN: 1432-1076
DOI: https://doi.org/10.1007/s00431-009-1074-1

Keynote webinar | Spotlight on medication adherence

Springer Medicine

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

Abstract

Introduction

Discussion

Conclusion

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Introduction

Discussion

Conclusion

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