Most of the clinical findings in the porphyrias are related to:
a. Accumulated porphyrin compounds in tissue
b. Anemia
c. Reduction in heme production
d. Iron being unavailable
ANS: A
In the porphyrias (generally used to refer to the inherited forms as opposed to acquired), an enzyme is missing in the protoporphyrin IX synthesis pathway. When an enzyme is missing, the products from earlier stages in the pathway accumulate in the blood. Some of these are excreted, but they also deposit in body tissues, contributing to the clinical picture.
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