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Aminoácidos enferm

Enfermedades relacionadas a los aminoácidos

TermDefinition
Enfermedad de orina con olor a jarabe de arce (DESCRIPCIÓN) Trastorno genético autosómico recesivo por defectos del complejo alfa cetoácido deshidrogenasa de cadena ramificada que provoca la acumulación de aminoácidos como la valina, isoleucina y leucina
Enfermedad de orina con olor a jarabe de arce (SÍNTOMAS) Orina con olor a jarabe de arce, dificultad para alimentarse, discapacidad intelectual, retraso en crecimiento, enfermedad psiquiátrica.
Enfermedad de orina con olor a jarabe de arce (PREVALENCIA) Se presenta en 1 por cada 185000 recién nacidos, más frecuente en hijos de padres que presenten lazos de consanguineidad, en poblaciones menonitas de USA, en poblaciones francocandienses y en poblaciones judías.
Enfermedad de orina con olor a jarabe de arce (CAUSA) Mutación en el gen que codifica el complejo alfa cetoácido deshidrogenasa de cadena ramificada que provocan la acumulación de valina, isoleucina y leucina en los tejidos y plasma
Enfermedad de orina con olor a jarabe de arce (TRATAMIENTO) Dieta baja en leucina, suplementación con isoleucina y valina, terapia intensiva nutricional, leche sin leucina, trasplante de hígado.
Created by: Keirimar3
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