What is Porphyria?

What is Porphyria?


We know by now that we need to eat the right foods, need to work out, and do stuff that is healthy for us. Because maintaining good health does not happen by accident, it requires work and smart lifestyle choices. But sometimes when we wake up at 6 am to hit the gym before work or shunning the donuts in breakfast, it’s easy to lose sight of for what are we doing all these. So here are some top articles choices that can keep you motivated to lead a healthy lifestyle and keep diseases at bay.

What is Porphyria?

Porphyrias are a group of metabolic disorders and each of the porphyrias result due to deficiency of a specific enzyme in the heme biosynthetic pathway. These enzyme deficiencies are inherited as autosomal dominant or recessive traits (the only exception being porphyria cutanea tarda or PCT which usually is sporadic). In the causation of porphyrias, environmental, physiological and genetic factors play complex roles with their interaction to each other.

Classification of porphyrias:

Porphyrias are classified depending on the primary site of overproduction and accumulation of their respective porphyrin precursors or porphyrins, as hepatic (in liver) or erythropoietic (in the red blood corpuscles) porphyrias. But some of the porphyrias the overproduction and accumulation of their porphyrins may overlap. A common example of hepatic porphyria is PTC (porphyria cutanea tarda), which is the commonest form of porphyria and presents with blistering cutaneous photosensitivity.

The erythropoietic porphyrias usually present with cutaneous photosensitivity at birth or in early childhood and sometimes even during intrauterine life (as is the case of congenital erythropoietic porphyria or CEP). In the erythropoietic porphyrias there is excess production porphyrins due to sensitivity to sunlight, especially to long-wave ultraviolet light. This cutaneous sensitivity to sunlight cause cell damage, scarring, and deformation of skin.

The symptoms of porphyrias are generally non specific and the diagnosis of porphyria may be delayed due to this. The facilities required for diagnosis of porphyria may not be available in all the diagnostic laboratories, which also can delay the diagnosis and as a result there is delay in starting appropriate treatment of porphyria.

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