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Fenilcetonuria - Overview

Nombres alternativos

FCU; Fenilcetonuria neonatal

Definición:

Es una rara afección en la cual un bebé nace sin la capacidad para descomponer apropiadamente un aminoácido llamado fenilalanina.

Causas:

La fenilcetonuria es una enfermedad hereditaria, lo cual significa que se transmite de padres a hijos. Ambos padres deben transmitir el gen defectuoso para que el bebé padezca la enfermedad, lo que se denomina un rasgo autosómico recesivo.

Los bebés con fenilcetonuria carecen de una enzima denominada fenilalanina hidroxilasa, necesaria para descomponer un aminoácido esencial, llamado fenilalanina, que se encuentra en alimentos que contienen proteína.

Sin la enzima, los niveles de fenilalanina y dos substancias estrechamente relacionadas se acumulan en el cuerpo. Estas sustancias son dañinas para el sistema nervioso central y ocasionan daño cerebral.

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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