DOI: 10.17151/biosa.2018.17.1.6
Cómo citar
García Restrepo N., Hernández G. J., Londoño M. L., & Muriel Ramírez R. (2018). Deficiencia de fenilalanina hidroxilasa : espectro clínico y estado actual del diagnóstico en Colombia. Biosalud, 17(1), 49-64. https://doi.org/10.17151/biosa.2018.17.1.6

Autores/as

Natalia García Restrepo

Especialista en Genética Médica. Docente del Departamento Materno-Infantil, Universidad de Caldas. Manizales, Colombia.

Universidad de Caldas
natalia.garcia@ucaldas.edu.co
https://orcid.org/0000-0003-0673-8500
Jorge Hernández G.

Estudiante de Medicina, Universidad de Caldas. Manizales, Colombia.

Universidad de Caldas
jorge.521214272@ucaldas.edu.co
https://orcid.org/0000-0002-8274-1085
María Laura Londoño

Estudiante de Medicina, Universidad de Caldas. Manizales, Colombia.

Universidad de Caldas
maria.521514333@ucaldas.edu.co
https://orcid.org/0000-0002-0484-170X
Richard Muriel Ramírez

Estudiante de Medicina, Universidad de Caldas. Manizales, Colombia.

Universidad de Caldas
richard.521211486@ucaldas.edu.co
https://orcid.org/0000-0002-3071-3592

Resumen

Las mutaciones del gen PAH generan deficiencia de la enzima fenilalanina hidroxilasa. Su actividad final varía desde una actividad casi nula o indetectable en la fenilcetonuria clásica hasta una actividad residual del 10 al 35% de la normal. Esta alteración corresponde al error innato del metabolismo de los aminoácidos más frecuente, afectando a 1 de cada 10.000 personas. Las diferentes cantidades de fenilalanina en sangre se traducen en un espectro amplio de manifestaciones clínicas que incluyen retraso global del desarrollo, discapacidad intelectual, convulsiones, rasgos autistas y comportamiento agresivo en los casos más graves. El diagnóstico temprano a través de los programas de tamizaje neonatal se considera prioritario pues las intervenciones oportunas evitan el daño del sistema nervioso central. Conclusiones: El diagnóstico en Colombia es tardío, las intervenciones realizadas a partir de ese momento son fútiles pues el deterioro cognitivo es irreparable, por lo tanto es imperativa la realización de pruebas diagnósticas tempranas cuando aún las intervenciones médicas pueden impactar la mejoría clínica del paciente con disminución importante de la morbilidad propia de esta patología, convirtiéndose en una necesidad la ampliación del programa de tamizaje neonatal, el cual estaría amparado bajo la ley colombiana de enfermedades huérfanas.

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