What is Porphyria

Many website contents or articles written on explaining the disease called " Porphyria " have done so using scientific and chemical terminology. For someone newly diagnosed with Porphyria this can be somewhat overwhelming to understand with no prior background in these fields of study.

In our description, we have chosen to get this message across in a simplified and easy to  understand layman terms.

There are seven types of porphyria, each differing slightly according to the specific enzyme which is defective. 

Porphyria 

Taken from the Greek word "Purple"

A dark, red photosensitive pigment, consisting of four pyrolle rings linked by single carbon atoms; a component of chlorophyll, heme & vitamin B12

The Porphyrias - the disease

These are a group of disorders in which the body produces too much Porphyrins and not enough Heme.

Simply put this group of disorders  are caused by abnormalities in the chemical steps leading to the production of heme.

What is Heme?..

Heme is produced in several tissues in the body but is predominantly manufactured in the liver & bone marrow.

Heme is utilised in virtually every tissue and organ in the body.

Heme is the iron-containing molecule that, when bound to globin chains (alpha and beta), forms haemoglobin. Haemoglobin performs the main functions of red cells, which are to carry oxygen to tissues and, to a lesser extent, return carbon monoxide from the tissue to the lungs

In most cells in the body, Heme is a key building block in the construction of factors that oversee metabolism and transport of oxygen and energy

The Production Process

 "The production of heme can be compared to a factory assembly line. At the start of the line, raw materials are fed into the process. At specific points along the line, an addition or adjustment is made to further development. Once additions and adjustments are complete, the final product rolls off the end of the line.

 

The heme "assembly line" is an eight-step process." Under normal circumstances, when heme concentrations are at an appropriate level, precursor production decreases. However, a glitch in the biosynthesis pathway—represented by a defective enzyme—means that heme biosynthesis does not reach completion. Because heme levels remain low, the synthesis pathway continues to churn out precursor molecules in an attempt to correct the heme deficit.