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Homocystinuria
- 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 dietf
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