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