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Síndrome de Bassen-Kornzweig - Información general

Nombres alternativos

Abetalipoproteinemia; Acantocitosis; Deficiencia de apolipoproteína B

Definición:

Es una enfermedad hereditaria rara, en la cual una persona es incapaz de absorber por completo las grasas de la dieta a través de los intestinos.

Causas, incidencia y factores de riesgo:

El síndrome de Bassen-Kornzweig es un trastorno autosómico recesivo que afecta con más frecuencia a los hombres, aunque también afecta a las niñas. Es causado por un defecto en el gen de la proteína de transferencia de triglicéridos microsómicos (MTP, por sus siglas en inglés).

El defecto hace que el cuerpo sea incapaz de crear lipoproteínas (moléculas de grasa combinadas con proteína). Las personas con esta enfermedad no pueden digerir apropiadamente la grasa y las vitaminas esenciales.

  • Fecha de revisión: 6/24/2007
  • Versión en inglés revisada por:Chad Haldeman-Englert, MD, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA. Review provided by VeriMed HealthcareNetwork.
  • Traducción y localización realizada por: DrTango, Inc

Referencias

Rodriguez-Oquendo A, Kwiterovich Jr PO. Dyslipidemias. In: Fernandes J, Saudubray J-M, van den Berghe G, Walter JH, eds. Inborn metabolic diseases: diagnosis and treatment. Germany: Springer; 2006:400-401.

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