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N-acetyl tyrosine: Semiquantitative marker for Parenteral Nutrition in newborn screening by tandem mass spectrometry

Description :

N-acetyl tyrosine (NACT) a compound widely used in parental nutrition and not related to a Inborn error of Metabolism. Currently measured in urine in plasma to rule out etiology for some findings in neonates. After being described the possibility of detecting it in dried blood spot during the APHL 2023, by CDC researchers. We will verify it in dried blood spot with no extra cost of the screening program as a new marker that improve positive predictive value for branched amino acid elevations.

Titulaire :
KHNEISSER Issam

Contact USJ :
issam.khneisser@usj.edu.lb

Chercheur(s) :
M. Issam KHNEISSER

Projet présenté au CR, le : 01/12/2024

Projet achevé auprès du CR : 30/11/2025