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

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 micromol/L (norm <5 micromol/L) and increased within 12 h to 87.5 micromol/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.