23 Porphyrias
Last updated
Last updated
anything increases activity of P450 can exacerbate condition
anemia can result with severe inhibition of enzymes
two common ones are hepatic porphyria: heme synthesis affected in liver
some carboxyl groups have 3 carbons, others 2
A for acetic, P for propionic
Uroporphyrinogen III must be oxidized, lose H2, to be converted to uroporphyrin III
skin major symptoms (cutanea)
heptatitis from uroporphyrins accumulation in liver
in kidney: tea colored urine
iron overload like hemochromatosis
determine high porphyrin, then fractionate to determine high uroporphyrin
vampire hypothesis
consume heme/blood, inhibit heme synthesis
late in pathway: skin symptoms
early in pathway: neurologic symptoms
low glucose, increased ALA synthase, rising heme
confusion, delirium, dementia
inhibited porphobilinogen deaminase and increased D ala synthase leads to increased D ala and porphobilinogen
urine darkens over time
avoid triggers
