Disease or Syndrome
porphyria
por·phyr·i·a [ pawr-feer-ee-uh, -fahy-ree-uh ]
Subclass of:
Metabolic Diseases
Etymology:
Greek porphyra = purple + -ia = condition
Used to denote a diseased state with an increase of porphyrins in the body.
Used to denote a diseased state with an increase of porphyrins in the body.
Definitions related to disorders of porphyrin metabolism:
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(porphyria) A group of genetic or acquired metabolic disorders characterized by defects in the enzymes that are involved in the heme synthesis.NCI ThesaurusU.S. National Cancer Institute, 2021
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(porphyria) Group of disorders characterized by the excessive production of porphyrins or their precursors that arises from abnormalities in the regulation of the porphyrin-heme pathway; acquired porphyrias, which are due to inhibition of enzymes in the metabolic pathway by a drug, toxin or abnormal metabolite, are more common than those which are inherited.CRISP ThesaurusNational Institutes of Health, 2006
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(porphyria) Porphyrias are a group of genetic disorders caused by problems with how your body makes a substance called heme. Heme is found throughout the body, especially in your blood and bone marrow, where it carries oxygen. There are two main types of porphyrias. One affects the skin and the other affects the nervous system. People with the skin type develop blisters, itching, and swelling of their skin when it is exposed to sunlight. The nervous system type is called acute porphyria. Symptoms include pain in the chest, abdomen, limbs, or back; muscle numbness, tingling, paralysis, or cramping; vomiting; constipation; and personality changes or mental disorders. These symptoms come and go. Certain triggers can cause an attack, including some medicines, smoking, drinking alcohol, infections, stress, and sun exposure. Attacks develop over hours or days. They can last for days or weeks. Porphyria can be hard to diagnose. It requires blood, urine, and stool tests. Each type of porphyria is treated differently. Treatment may involve avoiding triggers, receiving heme through a vein, taking medicines to relieve symptoms, or having blood drawn to reduce iron in the body. People who have severe attacks may need to be hospitalized. NIH: National Institute of Diabetes and Digestive and Kidney DiseasesMedlinePlusU.S. National Library of Medicine, 2021
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(porphyria) Porphyrias constitute a group of eight hereditary metabolic diseases characterized by intermittent neuro-visceral manifestations, cutaneous lesions or by the combination of both.OrphaNetINSERM, 2021
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(porphyrias) A diverse group of metabolic diseases characterized by errors in the biosynthetic pathway of HEME in the LIVER, the BONE MARROW, or both. They are classified by the deficiency of specific enzymes, the tissue site of enzyme defect, or the clinical features that include neurological (acute) or cutaneous (skin lesions). Porphyrias can be hereditary or acquired as a result of toxicity to the hepatic or erythropoietic marrow tissues.NLM Medical Subject HeadingsU.S. National Library of Medicine, 2021
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Porphyrias are rare disorders in which hemoglobin is abnormally metabolized due to genetic or acquired deficiencies of enzymes of the heme biosynthetic pathway. These deficiencies allow heme precursors to accumulate, causing toxicity. Porphyrias are defined by the specific enzyme deficiency. Two major clinical manifestations occur:...Merck & Co., Inc., 2020
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Porphyria (por-FEAR-e-uh) refers to a group of disorders that result from a buildup of natural chemicals that produce porphyrin in your body. Porphyrins are essential for the function of hemoglobin - a protein in your red blood cells that links to porphyrin, binds iron, and carries oxygen to your organs and tissues. High levels of...Mayo Foundation for Medical Education and Research
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Porphyrias are a group of blood conditions caused by a lack of an enzyme in the body that makes heme, an important molecule that carries oxygen throughout the body and is vital for all of the body�s organs. Major types include ALAD deficiency porphyria, acute intermittent porphyria, congenital erythropoietic porphyria, erythropoietic...National Center for Advancing Translational Sciences
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Porphyria, any of a group of diseases characterized by the marked overproduction and excretion of porphyrins or of one or another of their precursors. The porphyrins are reddish constituents of heme, the deep red iron-containing pigment of hemoglobin, the oxygen-carrying protein of the red blood...Encyclopedia Britannica, Inc., 2020
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