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Fenilcetonuria - Prevention

Nombres alternativos

FCU; Fenilcetonuria neonatal

Prevención:

Un análisis enzimático puede determinar si los padres son portadores del gen de la fenilcetonuria (FCU). Asimismo, se puede tomar una muestra de vellosidades coriónicas durante el embarazo para examinar el feto en búsqueda de esta enfermedad.

Es muy importante que las mujeres con fenilcetonuria sigan estrictamente una dieta baja en fenilalanina, tanto antes de quedar embarazadas como a través de todo el embarazo, ya que la acumulación de esta sustancia le causará daño al bebé en desarrollo, incluso sin que éste haya heredado el gen defectuoso.

Examen de fenilcetonuria

Reviewed last on: 6/17/2011
Kimberly G Lee, MD, MSc, IBCLC, Associate Professor of Pediatrics, Division of Neonatology, Medical University of South Carolina, Charleston, SC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

Referencias

American Dietetic Association. Providing nutrition services for infants, children, and adults with developmental disabilities and special health care needs. J Am Diet Assoc. Jan 2004; 104(1): 97-107.

Beblo S. Effect of fish oil supplementation on fatty acid status, coordination, and fine motor skills in children with phenylketonuria. J Pediatr. May 2007; 150(5): 479-84.

Filiano JJ. Neurometabolic diseases in the newborn. Clin Perinatol. Jun 2006; 33(2): 411-79.

Gassio R. School performance in early and continuously treated phenylketonuria. Pediatr Neurol. Oct 2005; 33(4): 267-71.

Welch T. Dietary management of mothers with PKU during pregnancy. J Pediatr. Feb 2004; 144(2); 1A.

Welch TR. Pharmacologic approach to PKU? J Pediatr. Jun 2007; 150(6); A3.

Screening for phenylketonuria (PKU): US Preventive Services Task Force reaffirmation recommendation. Ann Fam Med. 2008;6:166.

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