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Enfermedad de la orina con olor a jarabe de arce - Prevention

Nombres alternativos

EOOJA

Prevención:

Se recomienda la asesoría genética para las personas que deseen tener hijos y tengan antecedentes familiares de la enfermedad de la orina con olor a jarabe de arce. Muchos estados ahora realizan pruebas de detección a todos los recién nacidos para buscar esta enfermedad.

Si una prueba de detección muestra que su bebé puede tener esta enfermedad, se debe realizar inmediatamente un examen de sangre de seguimiento para los niveles de aminoácidos con el fin de confirmar la presencia de la enfermedad.

  • Reviewed last on: 5/15/2011
  • Chad Haldeman-Englert, MD, Wake Forest School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

Referencias

Wendel U, Ogier de Baulny H. Branched-chain organic acidurias/acidemias. In: Fernandes J, Saudubray J-m, van den Berghe G, Walter JH, eds. Inborn Metabolic Diseases: Diagnosis and Treatment. 4th ed. New York, NY: Springer; 2006:chap 19.

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