title: Significant increase of succinylacetone within the first 12 h of life in hereditary tyrosinemia type 1.
abstract: BACKGROUND
  In most countries, hereditary tyrosinemia type 1 is not included in routine newborn screening.
  
  
  CONCLUSIONS
  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.
  
  
  CONCLUSIONS
  With the high toxic potential of downstream metabolites, these data clearly point out the necessity of early nitisinone treatment to prevent symptomatic disease.
authors.affiliation: Department of General Pediatrics, University Children's Hospital, Moorenstrasse 5, Düsseldorf, Germany. jan-ulrich.schlump@med.uni-duesseldorf.de
authors.forename: Jan-Ulrich
authors.initials: JU
authors.lastname: Schlump
authors.forename: Ertan
authors.initials: E
authors.lastname: Mayatepek
authors.forename: Ute
authors.initials: U
authors.lastname: Spiekerkoetter
mesh_terms: D000367:Age Factors; D005260:Female; D005312:Fetal Blood / Q000737:chemistry; D006537:Heptanoates / Q000097:blood*; D006801:Humans; D007231:Infant, Newborn; D011296:Prenatal Diagnosis; D020176:Tyrosinemias / Q000097:blood* / Q000175:diagnosis; D000509:alpha-Fetoproteins / Q000032:analysis
chemical_list: D006537:Heptanoates; D000509:alpha-Fetoproteins; C020804:succinylacetone