A metabolic disorder characterized by the excretion of porphyrins in the urine and accompanied by attacks of abdominal pain, peripheral neuropathy, and a variety of mental symptoms. Some types are precipitated by barbiturates and alcohol.
A disease involving abnormally high blood levels of porphyrin.
A hereditary disease affecting the metabolism of porphyrin pigments.
Porphyria is not a single disorder; rather, it is a group of inherited disorders in which there is only one normal gene to produce a key enzyme in the biosynthesis of chelated iron or heme. With only one normal gene, there is a reduced level of normal enzyme activity, resulting in a buildup of the precursors behind the deficient enzyme. This buildup accumulates in body fluids and tissues and results in toxicity.
Any of several inherited disorders characterized by disturbance of the metabolism of porphyrins, affecting primarily the liver or bone marrow. The affected person excretes large amounts of porphyrins in the urine and has photosensitivity, neuritis, and mental disturbances.
One of a group of rare inherited disorders due to disturbance of the metabolism of the breakdown products (porphyrins) of the red blood pigment hemoglobin. The defect may be primarily in the liver (hepatic porphyria) or in the bone marrow (erythropoietic porphyria) or both. The prominent features include the excretion of porphyrins and their derivatives in the urine, which may change color on standing; sensitivity of the skin to sunlight causing chronic inflammation or blistering; inflammation of the nerves (neuritis); mental disturbances; and attacks of abdominal pain.
A group of rare inherited enzyme diseases in which disorders of the metabolic pathways leading to the synthesis of haem cause excessive production of haem precursors called porphyrins by the bone marrow or liver. The excess porphyrins in the blood mainly affect the skin, causing photosensitivity, or the central nervous system, causing various neuropsychiatric disorders. Excess porphyrins can be detected in blood, urine and faeces. Usually porphyrias are genetically determined, but one form is due to alcoholic liver disease. The commonest form, porphyria cutanea retarda, affects up to 1 in 5,000 people in some countries. The British king, George III, suffered from porphyria, a disorder unrecognized in the 18th century.
A group of disorders that result from a disturbance in any of the sequential steps involved in the synthesis of heme, causing increased formation and excretion of porphyrin or its precursors.
A cluster of disorders related to the biosynthesis of heme, which manifests as the excessive excretion of porphyrins, is collectively referred to as porphyrias. These conditions can either be inherited or acquired, typically resulting from the impact of specific chemical agents.
A set of uncommon, usually genetic disorders resulting from the buildup of compounds known as porphyrins.
Porphyrins are compounds produced in the body as part of the process of creating haem, an element of haemoglobin responsible for transporting oxygen in red blood cells. An interruption in this process leads to an accumulation of porphyrins, which can be toxic. This buildup can stem from certain genetic enzyme shortfalls. Additionally, porphyria can arise from exposure to toxins.
There are six varieties of porphyria, each presenting distinct symptoms. Those affected commonly exhibit a rash or blisters triggered by sunlight. Additionally, they might experience abdominal discomfort and neurological issues as a result of specific medications or alcohol.
The form known as acute intermittent porphyria typically emerges in early adulthood. It manifests as abdominal pain, frequently accompanied by limb cramps, muscle frailty, and mental health issues. When a patient’s urine is left standing, it takes on a red hue. Attacks can be triggered by drugs like barbiturates, phenytoin, oral contraceptives, and some other medications.
The variegate porphyria condition exhibits symptoms similar to those of acute intermittent porphyria and can be triggered by the same medications. A distinguishing symptom is the formation of blisters on skin areas that have been exposed to sunlight.
The hereditary coproporphyria type shows symptoms akin to those of acute intermittent porphyria and might also lead to extra skin-related symptoms.
In the protoporphyria type of porphyria, mild skin reactions occur following exposure to sunlight.
The condition known as porphyria cutanea tarda leads to skin blistering when exposed to sunlight, but it doesn’t affect the digestive or nervous systems. Injuries tend to heal slowly, and the urine can sometimes appear pink or brown. Often, liver disease triggers many of these cases.
Congenital erythropoietic porphyria is the least common and most severe type of porphyria. Symptoms include a red tint to urine and teeth, excessive hairiness, intense skin blisters and ulcers, and haemolytic anaemia. Unfortunately, it can be fatal in childhood.
Diagnosis is determined by detecting unusual porphyrin levels in the urine and stools. Treating porphyria is challenging.
Staying away from sunlight and certain triggering drugs is crucial. The treatment for acute intermittent porphyria, hereditary coproporphyria, and variegate porphyria can benefit from the introduction of glucose or hemin (a compound similar to haem). In some instances of porphyria cutanea tarda, drawing blood from a vein, known as venesection, might be beneficial.
A congenital metabolic disorder resulting in the abnormal production of substances known as porphyrins, leading to the presence of significant quantities of uroporphyrin in the urine. There are three distinct types of this condition.