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?

Image is in the public domain.


Stephanie said...

homocystinuria, treat with vitamin B3?

Craig Chen said...

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.