Wednesday, November 25, 2009

Inborn Error of Metabolism

Ah yes, everyone's favorite lecture, the inborn errors of metabolism. You meet a 5 year old with mental retardation who was just diagnosed with ectopia lentis (dislocated lens), which occurs in 90% of these patients; 60% have a inferior or nasal subluxation. There is a family history of this disease which seems to skip generations. The patient is at risk for osteoporosis and thromboembolism. Physical exam shows tall stature.

Challenge: What's the diagnosis?

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2 comments:

  1. StephNovember 26, 2009 at 2:21 PM

    homocystinuria, treat with vitamin B3?

    ReplyDelete
  2. CraigNovember 27, 2009 at 6:20 PM

    wow steph, I can't believe you remember step 1 diseases
    -
    Inborn Error of Metabolism

    This is homocystinuria, an autosomal recessive disorder of methionine metabolism due to a deficiency in cystathionine synthetase.

    Sources: UpToDate; Wikipedia.

    ReplyDelete

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