April 20, 2009

Ruled Out: Mitochondrial Disease (*maybe*)

Calling the lab today to check on the status of Bertrand's 4/14/09 (still not in) I was surprised by what was in: some of today's lab results. Here they are.
  • Creatine 173 (normal range <296)
  • Cortisol 20.3 (normal range 1-23)
  • Glucose 53 (normal range 40-70)
  • Lactic Acid 1.0 (normal range 0.8-2.2)
The normal lactic acid doesn't completely rule out the mitochondrials (only with a muscle biopsy could we be sure), but it makes a mitochondrial disease highly unlikely.

The normal creatine makes a peroxisomal disorder unlikely. In particular, the normal cortisol and glucose make Allgrove unlikely as well. (However, another ACTH test is still pending--this could still lead to some symptomatic steroid treatment.)

1 comment :

  1. VERY interesting!! Gosh, I can't believe they still haven't found a diagnosis for B yet!