what is porphyria?
Porphyria are a group of diseases that affect the nervous system, skin, or both. Each of the types of porphyria happens because of the deficiency of one of the enzymes that is needed to produce a substance called heme. Enzymes are a certain type of protein that is needed to make chemical reactions happen in the body. To make heme, there needs to be eight different types of enzymes that each act in turn.
Heme is a red type of pigment made of iron that is linked to a chemical named protoporphyrin. You can find the largest amounts of heme located in the blood and bone marrow in the form of hemoglobin within red blood cells. Hemoglobin is the reason blood is a red color, and it also carries oxygen from the lungs to all the others parts of the body. In the liver, heme is an element of proteins that have many jobs: Breaking down hormones, drugs, and other chemicals, and also producing high-energy compounds that keep the liver cells alive and functioning normally.
In the body heme is mainly made in the bone marrow and liver. Heme Biosynthetic pathway is the process of making heme. Each development of the process is controlled by one of the eight enzymes. If any of the enzymes were to be deficient, then the process would be disrupted. Because of this, the porphyrin/it's precursors-chemicals formed way earlier in the process-would build in body tissues and cause an illness.
Heme is a red type of pigment made of iron that is linked to a chemical named protoporphyrin. You can find the largest amounts of heme located in the blood and bone marrow in the form of hemoglobin within red blood cells. Hemoglobin is the reason blood is a red color, and it also carries oxygen from the lungs to all the others parts of the body. In the liver, heme is an element of proteins that have many jobs: Breaking down hormones, drugs, and other chemicals, and also producing high-energy compounds that keep the liver cells alive and functioning normally.
In the body heme is mainly made in the bone marrow and liver. Heme Biosynthetic pathway is the process of making heme. Each development of the process is controlled by one of the eight enzymes. If any of the enzymes were to be deficient, then the process would be disrupted. Because of this, the porphyrin/it's precursors-chemicals formed way earlier in the process-would build in body tissues and cause an illness.
what are the types of porphyria?
Listed below are all of the types of porphyria and also the deficient enzyme that was accountable for the disorder. Porphyrias are either grouped as acute or cutaneous. Acute porphyras affect the nervous system and cutaneous mainly affect the skin.
Porphyria cutanea tarda is the most common porphyria overall. Also, in the United States, acute intermittent porphyria is the most common.
what causes porphyria?
Most of the porphyrias are inherited disorders; this means they are caused by abnormalities in genes that can be passed on from parents to children. Some of the types of porphyria happen by receiving an abnormal gene from a parent. Other types of porphyria happen by receiving two types of abnormal genes from-one from each parent. The risk of the affected family getting the disease or even passing it on to children all depends on what form of porphyria.
Porphyria can be generated by:
-drugs (barbiturates, tranquilizers, birth control pills, sedatives)
-chemicals
-fasting
-smoking
-drinking alcohol (especially heavy drinking)
-infections
-having excessive iron in body
-emotional and physical stress
-menstrual hormones
-being exposed to sun
Porphyria can be generated by:
-drugs (barbiturates, tranquilizers, birth control pills, sedatives)
-chemicals
-fasting
-smoking
-drinking alcohol (especially heavy drinking)
-infections
-having excessive iron in body
-emotional and physical stress
-menstrual hormones
-being exposed to sun
what are the symptoms of porphyria?
There are different types of symptoms for the two groups of porphyrias. People who have forms of cutaneous have itching, blisters, and skin swelling when exposed to sunlight. Those who have forms of acute porphyria have pain in the abdomen, chest, limbs, and back; numbness, tingling sensation, paralysis, or cramping; vomiting; constipation; and personality changes or mental disorders.
The symptoms can vary to a large degree. Some of the people who have gene mutations that may cause porphyria may not have symptoms or signs of the disorder. Though only mutations occurring in gametes (sex cells) can be passed on to offspring because gametes are the only cells that can pass along genetic information with a porphyria victim.
The symptoms can vary to a large degree. Some of the people who have gene mutations that may cause porphyria may not have symptoms or signs of the disorder. Though only mutations occurring in gametes (sex cells) can be passed on to offspring because gametes are the only cells that can pass along genetic information with a porphyria victim.
where did porphyria get its name?
Porphyria comes from the Greek word "Porphyrus," which means purple. The urine of some patients can sometimes be a purple-reddish color.
Who first diagnosed this disease? when?
The whole idea of "vampires" came from the myth in the middle ages of people who had porphyria being referred to as "vampires." The term porphyria is kind of new, but the disease has existed since the beginning of time. For centuries the disease was called the blood/liver disease. The person to actually clinically describe the disease first was Dr. Schultz, a German graduate medical student in 1874. In some medical journals, people cite Hippocrates as the first to recognize porphyria.
The Medical truth behind the vampire myths
Fifty years ago, the treatment of injecting heme was unavailable and the disease was unknown. A misbelief that people thought back then was ingesting another person's heme, and it would replenish their supply, but recent studies have proven this false.
In the past, people who had porphyria would show symptoms of: Extreme sensitivity to the sunlight, sores and scares that would break open and not heal properly, excessive hair growth, and tightenineg of skin around lips and gums.
In the past, people who had porphyria would show symptoms of: Extreme sensitivity to the sunlight, sores and scares that would break open and not heal properly, excessive hair growth, and tightenineg of skin around lips and gums.