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  • Autosomal Rcessive inheritance
  • defect in methionine metabolism (decreased enzyme cystathionine beta-synthase)

Homocystinuria Clinical Evaluation

  • Osteoporosis
  • marfanoid habitus
  • inferior lens dislocation
  • retardation
  • diagnosed by homocystine in urine

Homocystinuria Treatment

  • vit B6
  • decreased methionine in diet


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