Porphyrias are a group of genetic disorders characterized by high levels of porphyrins in the blood and tissues, because of a failure to change porphyrins and porphyrin precursors into heme. There are several types of porphyria, each with different symptoms and disease progression.
Porphyrias are a group of genetic disorders characterized by high levels of porphyrins in the blood and tissues. There are several types of porphyrias, each with different symptoms and disease progression. Patients with acute intermittent porphyria, variegate porphyria, and hereditary coproporphyria are…
Porphyria refers to a group of genetic disorders characterized by high levels of porphyrins in the blood and tissues. Several types of porphyria exist, each with different symptoms and disease progression. Patients with acute porphyria can experience episodes of severe symptoms that…
If you have a rare genetic disease like porphyria, you may be wondering whether your children could inherit the disease. Differing types of porphyria can have different inheritance patterns, and their disease-causing mutations can be found in differing genes. If you are planning to expand your family, you may want…
Porphyria is a group of genetic disorders in which there are high levels of porphyrins in the blood and tissues. Each type of porphyria has different symptoms and disease progression. That’s why a series of exams and tests may be necessary to diagnose a patient with…
If you’ve been diagnosed with porphyria — one of a group of disorders characterized by very high levels of porphyrins in the blood and tissues — you may be wondering how the disease affects your lifespan. Several factors affect a person’s lifespan, including genetics, the environment, and one’s…
Exposure to sunlight can affect people with cutaneous porphyrias (largely marked by fragility of sun-exposed skin), and two types of acute porphyrias — variegate porphyria, or hereditary coproporphyria. The severity of the reaction, however, differs among patients. Why is sun exposure a problem? In some kinds of…
Diseases that are characterized by high levels of porphyrins in the blood, urine, and tissues, are grouped under the name porphyrias. It’s important to discuss with your doctor the risks of pregnancy with porphyria, and any potential harm that medications you are taking might cause the fetus. Can patients…
Porphyria refers to a group of rare diseases characterized by high levels of porphyrins in the blood, urine, and tissues. What are porphyrins? Porphyrins are ring-shaped molecules that undergo a series of chemical changes to produce heme — an important component of the protein hemoglobin, which…
Porphyria refers to a group of disorders in which affected individuals cannot make hemoglobin. Hemoglobin is the protein that binds oxygen in red blood cells. Due to this inability, porphyrins — chemicals that the body normally uses to make hemoglobin — build up in the body. Following are…
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