The Incidence of Transient Neonatal Tyrosinemia Within a Mexican Population

AUTOR(ES)

Zea-Rey, Alexandra V.

FONTE

J. inborn errors metab. screen.

DATA DE PUBLICAÇÃO

16/05/2019

RESUMO

Abstract Transient neonatal tyrosinemia (TNT) is a form of hypertyrosinemia produced by the immaturity of 4-hydroxyphenylpyruvate dioxygenase (4-HPPD), a high intake of phenylalanine and tyrosine, and a relative ascorbic acid deficiency. Our objectives are to determine the incidence of TNT in Mexican newborns and to correlate it based on their sex, gestational age, and weight for gestational age to determine whether these are risk factors that predict the development of TNT. A cross-sectional descriptive study was conducted from January 2006 to August 2017. We analyzed 175 976 of newborn screening reports and found that the overall incidence of TNT was 1 (0.29%) in 342 newborns. It is more prevalent in preterm infants and in small for gestational age newborns (0.35%).The TNT incidence was determined in this Mexican population, and it was established as the most frequently occurring amino acid defect. We propose that pediatricians intentionally search for this pathology to offer patients access to adequate and timely treatment.

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