Nutrición Hospitalaria (Oct 2012)
Importancia del diagnóstico precoz de fenilcetonuria en la mujer y del control de los niveles de fenilalanina en la gestación Importance of early diagnosis of phenylketonuria in women and control of phenylalanine levels during pregnancy
Abstract
La Fenilalanina Hidroxilasa (PAH) hidroxila a nivel hepático la fenilalanina proveniente de la dieta. Los fetos dependen para la hidroxilación de fenilalanina de la función materna, ya que por inmadurez fetal esta función no se adquiere hasta la semana 26. Los pacientes con deficiencia de PAH (Fenilcetonuria, PKU) no hidroxilan adecuadamente la fenilalanina de la dieta por lo que sus niveles en sangre estan elevados. Los niveles de fenilalaninemia se consideran teratogénicos y neurotóxicos por encima de 360 umol/L (N The phenylalanine hydroxylase (PAH) in the liver hydroxylates phenylalanine from the diet. Fetuses depend for the hydroxylation of phenylalanine the maternal metabolism , fetal maturity does not come until week 26. Though the women with PAH deficiency (phenylketonuria, PKU) not adequately hydroxylate phenylalanine diet so their blood levels are high. Fenilalaninemia levels are considered neurotoxic teratogenic and above 360 umol/L (N < 120). Pregnant women should strictly follow PKU dietary treatment and/or drug to maintain levels of fenilalaninemia < 180 umol/L and avoid the teratogenic complications in the fetus (Hyperphenylalaninaemias Maternal Fetal Syndrome), as the case presented. We recommend discarding Phenylketonuria in women who have not been done a neonatal screening and/or have abortions, children with microcephaly, cardiac or renal malformations.
