Significant increase of succinylacetone within the first 12 h of life in hereditary tyrosinemia type 1.
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.
Schlump
Jan-Ulrich
JU
Department of General Pediatrics, University Children's Hospital, Moorenstrasse 5, Düsseldorf, Germany. jan-ulrich.schlump@med.uni-duesseldorf.de
Mayatepek
Ertan
E
Spiekerkoetter
Ute
U
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
D006537:Heptanoates; D000509:alpha-Fetoproteins; C020804:succinylacetone