The porphyria having a defect in the ferrochetalase enzyme within the rbc is known as Erythropoietic protoporphyria or (EPP).
What is Erythropoietic protoporphyria?
Erythropoietic protoporphyria is a metabolic disorder which is caused by the deficiency of a specific enzyme called ferrochelatase.
When certain types of mutations occur in the body, it leads to the severs deficiency of ferrochelatase which causes Erythropoietic protoporphyria disorder.
Simply put, Erythropoietic protoporphyria is an inherited disease or disorder that shows its symptoms when sunlight falls on the body and is responsible for burning, acute pains, edema and erythema in the body.
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