Day 83: Maybe this is it

Today’s inane image of the day:

An activity Dr. Bee had us do during class on Tuesday… we placed felt “muscles”  over the correct area of one of our dissection group members.

On Thursday, we had another patient panel. This particular patient is the mother of a daughter with a mild form of OTCase [ornithine transcarbamylase] deficiency. What caused my tears to flow during the presentation was that she watched her first born child [a son] pass away merely days after his birth due to this inherited X-linked metabolic disorder. [Because the mutation is X-linked, and males only have 1 “X” chromosome, they usually present with the full form of the disorder. Females have 2 “X” chromosomes, so they can be asymptomatic carriers and pass on the mutation.]

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