Sunday, February 21, 2010

Other Mitochondria disease: MNGIE


MNGIE-  aut rec, presents with abdominal pain, malabsorption and weight loss.  Peripheral neuropathy and leukodystrophy occur.Serum lactate is almost invariably high.  Elevated thymidine is seen, and WBC shows decreased thymidine phosphorylase (buffy coat??).
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