Q:

A 6-year-old tall and thin boy who had failed preparatory exam for schoolentry found to have myopia and subluxation of the ocular lens

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A 6-year-old tall and thin boy who had failed preparatory exam for schoolentry found to have myopia and subluxation of the ocular lens. Of the following, the MOST important challenge is to know whether he is responsive to


  1. folic acid
  2. vitamin C
  3. vitamin E
  4. vitamin B6
  5. vitamin B12

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(D). Homocystinuria; this is the most common inborn error of methionine metabolism. Approximately 40% of affected patients respond to high doses of vitamin B6 and usually have milder clinical manifestations than those who are unresponsive to vitamin B6 therapy. These patients possess some residual enzyme activity

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