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Homocistinuria - Información general

Nombres alternativos

Deficiencia de cistationina beta-sintasa

Definición:

Es un trastorno hereditario que afecta el metabolismo del aminoácido metionina.

Causas, incidencia y factores de riesgo:

La homocistinuria se hereda en familias como un rasgo autosómico recesivo, lo cual significa que el niño debe heredar el gen defectuoso de ambos padres para que resulte afectado seriamente.

La homocistinuria tiene varios rasgos comunes con el síndrome de Marfan. A diferencia del síndrome de Marfan, en el cual las articulaciones tienden a estar "flojas o sueltas", en la homocistinuria tienden a estar "rígidas".

  • Fecha de revisión: 5/15/2008
  • Versión en inglés revisada por:Chad Haldeman-Englert, MD, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.
  • Traducción y localización realizada por: DrTango, Inc

Referencias

Rezvani I. Defects in Metabolism of Amino Acids. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF. Kliegman: Nelson Textbook of Pediatrics. 18th ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 85.

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