Porphyrins Stool Test
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Porphyrins are a group of chemicals that help form many important substances in the body, including haemoglobin. A porphyrins test is used to diagnose porphyrias, which are a group of rare disorders often passed down through family members.
Porphyria is an inherited disorder in which the body produces too much of the chemical porphyrin. Any circulating porphyrin the body doesn't use is excreted in urine and stool. Porphyria is a term that refers to a group of disorders that affect the nervous system or skin, or both.
Each type of porphyria is due to the deficiency of one of the enzymes needed to make a substance in the body called haeme. Making haeme involves a series of eight different enzymes, each acting in turn.
Haeme is a red pigment composed of iron linked to a chemical called protoporphyrin. Haeme has important functions in the body. The largest amounts of haeme are in the blood and bone marrow in the form of haemoglobin within red blood cells. Haemoglobin gives blood its red color and carries oxygen from the lungs to all parts of the body.
In the liver, haeme is a component of proteins that have many functions, including breaking down hormones, drugs, and other chemicals and generating high-energy compounds that keep liver cells alive and functioning normally.
The body makes haeme mostly in the bone marrow and the liver. Each step of the process is controlled by one of eight enzymes. If any one of the enzymes is deficient, the process is disrupted. As a result, porphyrin or its precursors—chemicals formed at earlier steps of the process—may build up in body tissues and cause illness.
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