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



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


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.


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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Correspondence to Jan-Ulrich Schlump.

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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).

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  • HT1
  • Newborn screening
  • Nitisinone